PHKB

Summary

PHKB (phosphorylase kinase regulatory subunit beta, HGNC:8927) is a protein-coding gene on chromosome 16q12.1, encoding Phosphorylase b kinase regulatory subunit beta (Q93100). Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.

Source: NCBI Gene 5257 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycogen storage disease IXb (Definitive, ClinGen)
• Clinical variants (ClinVar): 1,215 total — 88 pathogenic, 59 likely-pathogenic (top 2% of genes corpus-wide)
• GTEx eGene: eQTL in 19 tissues, sQTL in 9 (q < 0.05)
• Phenotypes (HPO): 54
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.79 (unconstrained)
• MANE Select transcript: NM_000293

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8927
Approved symbol	PHKB
Name	phosphorylase kinase regulatory subunit beta
Location	16q12.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000102893
Ensembl biotype	protein_coding
OMIM	172490
Entrez	5257

Gene structure

Transcript identifiers

Ensembl transcripts: 46 — 28 protein_coding, 12 nonsense_mediated_decay, 3 retained_intron, 3 protein_coding_CDS_not_defined

MANE Select: ENST00000323584

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 3, TSL 3: 9, TSL 5: 2

ENST00000323584, ENST00000299167, ENST00000563376, ENST00000564711, ENST00000564873, ENST00000565424, ENST00000566037, ENST00000566044, ENST00000566275, ENST00000566319, ENST00000566436, ENST00000566721, ENST00000567200, ENST00000567402, ENST00000568171, ENST00000568439, ENST00000570047, ENST00000696809, ENST00000699276, ENST00000868352, ENST00000868353, ENST00000868354, ENST00000940565, ENST00000970598, ENST00000970599, ENST00000970600, ENST00000970601, ENST00000970602, ENST00000970603, ENST00000970604, ENST00000970605, ENST00000970606, ENST00000984239, ENST00000984240, ENST00000984241, ENST00001055023, ENST00001055024, ENST00001055025, ENST00001055026, ENST00001055028, ENST00001084456, ENST00001110648, ENST00001110649, ENST00001110650, ENST00001125850, ENST00001137148

RefSeq mRNA: 3 — MANE Select: NM_000293 NM_000293, NM_001031835, NM_001363837

CCDS: CCDS10729, CCDS42161, CCDS92152

Canonical transcript exons

ENST00000323584 — 31 exons

Exon	Start	End
ENSE00000682879	47610826	47610920
ENSE00000945141	47641035	47641090
ENSE00000945142	47641599	47641692
ENSE00000945143	47648533	47648616
ENSE00000945144	47649100	47649204
ENSE00000945145	47650544	47650626
ENSE00000945146	47650831	47650921
ENSE00000945150	47663677	47663734
ENSE00001020454	47593500	47593557
ENSE00001020458	47594137	47594214
ENSE00001869768	47461331	47461426
ENSE00003471588	47515521	47515601
ENSE00003482622	47596373	47596531
ENSE00003488043	47511665	47511772
ENSE00003496924	47497399	47497488
ENSE00003500705	47580295	47580358
ENSE00003501358	47587668	47587763
ENSE00003508838	47661719	47661800
ENSE00003548820	47693378	47693507
ENSE00003549101	47669215	47669417
ENSE00003558634	47660506	47660567
ENSE00003560023	47698448	47698588
ENSE00003571180	47689041	47689175
ENSE00003577000	47696381	47696488
ENSE00003584924	47547433	47547548
ENSE00003623463	47502991	47503090
ENSE00003628105	47588905	47589102
ENSE00003658560	47660657	47660819
ENSE00003693186	47499756	47499894
ENSE00003976138	47664885	47664975
ENSE00004790230	47699229	47701523

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 97.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9340 / max 155.8396, expressed in 1811 samples.

Highest expression (Bgee): adrenal tissue, vastus lateralis, quadriceps femoris, muscle organ, skeletal muscle organ.

Genetic regulation across tissues (GTEx eQTL / sQTL)

PHKB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 19 tissues and its splicing (sQTL) in 9 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 28 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	3.9e-32	-1.88	16:47286853:T:C
Breast Mammary Tissue	sqtl	1.5e-13	-0.93	16:47702320:C:T
Nerve Tibial	eqtl	9.3e-05	-0.12	16:47137422:T:C
Artery Tibial	eqtl	1.8e-04	+0.18	16:47493190:C:T
Brain Cerebellar Hemisphere	eqtl	3.2e-04	+0.61	16:46489040:TG:T
Artery Aorta	eqtl	7.9e-04	+0.18	16:47493190:C:T
Muscle Skeletal	sqtl	8.7e-04	+0.39	16:47116945:G:T
Brain Cerebellum	eqtl	1.5e-03	+0.72	16:47326687:A:G
Heart Atrial Appendage	eqtl	1.5e-03	-0.18	16:47596144:GT:G
Lung	sqtl	1.6e-03	-0.57	16:47445627:C:A
Skin Sun Exposed Lower leg	eqtl	4.9e-03	-0.29	16:48111738:G:T
Adipose Visceral Omentum	eqtl	5.8e-03	+0.42	16:46944965:A:G
Cells Cultured fibroblasts	eqtl	6.9e-03	+0.11	16:47650775:TATTA:T
Esophagus Mucosa	eqtl	8.2e-03	-0.09	16:47400263:C:A
Muscle Skeletal	eqtl	1.2e-02	-0.12	16:47476271:G:A
Brain Anterior cingulate cortex BA24	eqtl	1.4e-02	+0.99	16:48200416:C:T
Cells EBV-transformed lymphocytes	eqtl	1.5e-02	-0.36	16:47942948:G:A
Adipose Visceral Omentum	sqtl	2.2e-02	+1.04	16:46740389:C:T
Adipose Subcutaneous	sqtl	2.4e-02	-0.39	16:47493190:C:T
Nerve Tibial	sqtl	2.7e-02	-0.65	16:48404041:C:G

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
153937	18.3007	1805
153936	1.4929	998
153939	0.7322	287
153938	0.2642	103
153940	0.0796	32
153941	0.0643	40

Top tissues by expression

showing 100 of 300 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	97.86	gold quality
vastus lateralis	UBERON:0001379	97.23	gold quality
quadriceps femoris	UBERON:0001377	96.56	gold quality
muscle organ	UBERON:0001630	96.15	gold quality
skeletal muscle organ	UBERON:0014892	96.15	gold quality
biceps brachii	UBERON:0001507	96.14	gold quality
muscle of leg	UBERON:0001383	96.12	gold quality
sperm	CL:0000019	96.10	gold quality
gastrocnemius	UBERON:0001388	96.10	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.99	gold quality
skeletal muscle tissue	UBERON:0001134	95.53	gold quality
male germ cell	CL:0000015	95.46	gold quality
renal medulla	UBERON:0000362	95.44	gold quality
right adrenal gland cortex	UBERON:0035827	95.28	gold quality
superior surface of tongue	UBERON:0007371	95.25	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.22	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.17	gold quality
rectum	UBERON:0001052	95.16	gold quality
right adrenal gland	UBERON:0001233	94.99	gold quality
adrenal gland	UBERON:0002369	94.97	gold quality
synovial joint	UBERON:0002217	94.96	gold quality
adrenal cortex	UBERON:0001235	94.87	gold quality
left adrenal gland	UBERON:0001234	94.81	gold quality
cardia of stomach	UBERON:0001162	94.78	gold quality
monocyte	CL:0000576	94.75	gold quality
jejunum	UBERON:0002115	94.74	gold quality
muscle tissue	UBERON:0002385	94.69	gold quality
left adrenal gland cortex	UBERON:0035825	94.61	gold quality
ganglionic eminence	UBERON:0004023	94.51	gold quality
mononuclear cell	CL:0000842	94.42	gold quality
calcaneal tendon	UBERON:0003701	94.29	gold quality
leukocyte	CL:0000738	94.10	gold quality
body of pancreas	UBERON:0001150	94.03	gold quality
pylorus	UBERON:0001166	93.96	gold quality
deltoid	UBERON:0001476	93.92	gold quality
tonsil	UBERON:0002372	93.90	gold quality
gluteal muscle	UBERON:0002000	93.85	gold quality
body of tongue	UBERON:0011876	93.79	gold quality
triceps brachii	UBERON:0001509	93.73	gold quality
gall bladder	UBERON:0002110	93.69	gold quality
tongue	UBERON:0001723	93.66	gold quality
left lobe of thyroid gland	UBERON:0001120	93.52	gold quality
mucosa of transverse colon	UBERON:0004991	93.48	gold quality
right lobe of thyroid gland	UBERON:0001119	93.47	gold quality
colonic epithelium	UBERON:0000397	93.46	gold quality
minor salivary gland	UBERON:0001830	93.37	gold quality
corpus callosum	UBERON:0002336	93.34	gold quality
saliva-secreting gland	UBERON:0001044	93.30	gold quality
thyroid gland	UBERON:0002046	93.30	gold quality
jejunal mucosa	UBERON:0000399	93.15	gold quality
endometrium	UBERON:0001295	93.05	gold quality
pancreas	UBERON:0001264	93.04	gold quality
ventricular zone	UBERON:0003053	92.92	gold quality
islet of Langerhans	UBERON:0000006	92.87	gold quality
right testis	UBERON:0004534	92.76	gold quality
mouth mucosa	UBERON:0003729	92.71	gold quality
tendon	UBERON:0000043	92.70	gold quality
right lung	UBERON:0002167	92.68	gold quality
stomach	UBERON:0000945	92.58	gold quality
cardiac ventricle	UBERON:0002082	92.58	gold quality
heart left ventricle	UBERON:0002084	92.57	gold quality
smooth muscle tissue	UBERON:0001135	92.53	gold quality
bone marrow cell	CL:0002092	92.52	gold quality
left testis	UBERON:0004533	92.49	gold quality
adenohypophysis	UBERON:0002196	92.42	gold quality
endothelial cell	CL:0000115	92.41	gold quality
esophagus mucosa	UBERON:0002469	92.38	gold quality
heart right ventricle	UBERON:0002080	92.34	gold quality
pituitary gland	UBERON:0000007	92.31	gold quality
diaphragm	UBERON:0001103	92.31	gold quality
apex of heart	UBERON:0002098	92.29	gold quality
fundus of stomach	UBERON:0001160	92.28	gold quality
small intestine	UBERON:0002108	92.28	gold quality
urethra	UBERON:0000057	92.27	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.27	gold quality
germinal epithelium of ovary	UBERON:0001304	92.25	gold quality
heart	UBERON:0000948	92.23	gold quality
body of stomach	UBERON:0001161	92.20	gold quality
upper lobe of left lung	UBERON:0008952	92.06	gold quality
transverse colon	UBERON:0001157	92.03	gold quality
metanephros cortex	UBERON:0010533	92.02	gold quality
inferior vagus X ganglion	UBERON:0005363	92.00	gold quality
left ventricle myocardium	UBERON:0006566	91.97	gold quality
upper lobe of lung	UBERON:0008948	91.97	gold quality
trigeminal ganglion	UBERON:0001675	91.96	gold quality
myocardium	UBERON:0002349	91.95	gold quality
dorsal root ganglion	UBERON:0000044	91.89	gold quality
intestine	UBERON:0000160	91.88	gold quality
subthalamic nucleus	UBERON:0001906	91.88	gold quality
adult mammalian kidney	UBERON:0000082	91.87	gold quality
testis	UBERON:0000473	91.86	gold quality
right atrium auricular region	UBERON:0006631	91.78	gold quality
cardiac atrium	UBERON:0002081	91.77	gold quality
lymph node	UBERON:0000029	91.76	gold quality
pharyngeal mucosa	UBERON:0000355	91.76	gold quality
spleen	UBERON:0002106	91.75	gold quality
large intestine	UBERON:0000059	91.63	gold quality
uterus	UBERON:0000995	91.63	gold quality
nerve	UBERON:0001021	91.60	gold quality
esophagus	UBERON:0001043	91.60	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-135	yes	1666.52
E-ANND-3	yes	9.21
E-CURD-112	no	2.26

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Skeletal muscle	tissue	122.8
Choroid plexus	tissue	96.7
Tongue	tissue	65.1
Postcentral gyrus	tissue	62.8
Locus coeruleus	tissue	60.4
Nucleus accumbens	tissue	57.4
Hippocampus	tissue	51.3
Parathyroid gland	tissue	36.5
Thyroid gland	tissue	35.0
Midbrain	tissue	33.7
Kidney	tissue	32.9
Thalamus	tissue	32.3
Cerebellum	tissue	32.2
Pons	tissue	30.8
Superior colliculi	tissue	29.8
Substantia nigra	tissue	29.2
Adrenal gland	tissue	29.2
Spinal cord	tissue	29.0
Salivary gland	tissue	28.8
Rectum	tissue	28.6
Periaqueductal gray	tissue	28.2
Cerebral cortex	tissue	27.6
Somatosensory cortex	tissue	27.6
Medulla oblongata	tissue	27.4
Hippocampal formation	tissue	27.1
Entorhinal cortex	tissue	27.1
Occipital cortex	tissue	27.1
Putamen	tissue	26.6
Motor cortex	tissue	26.4
Hypothalamus	tissue	26.3
Colon	tissue	25.9
Placenta	tissue	25.8
Heart muscle	tissue	25.1
Retrosplenial and cingulate cortex	tissue	25.1
Breast	tissue	25.0
Prefrontal cortex	tissue	24.8
Retrosplenial cortex	tissue	24.8
Epididymis	tissue	24.7
Prostate	tissue	24.5
Temporal cortex	tissue	24.5
Septum	tissue	24.4
Basal ganglia	tissue	24.3
Ventral forebrain	tissue	24.2
Small intestine	tissue	24.0
Stomach 1	tissue	23.9
Liver	tissue	23.6
Duodenum	tissue	23.6
Insular cortex	tissue	23.6
Amygdala	tissue	23.1
Seminal vesicle	tissue	22.8
Smooth muscle	tissue	22.8
Corpus callosum	tissue	22.7
Cervix	tissue	22.2
Esophagus	tissue	21.0
Adipose tissue	tissue	20.9
Lung	tissue	20.5
Caudate putamen	tissue	20.5
Pituitary gland	tissue	20.4
Vagina	tissue	20.4
Tonsil	tissue	20.2

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Paraventricular nucleus (72.7), Mammillary body (71.5), Posterior thalamic nucleus (69.9), Ventromedial nucleus (69.3), Arcuate nucleus (68.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting PHKB by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 70 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-448	99.79	72.37	2103

Functional genomics

gnomAD constraint: pLI 1.22e-07, LOEUF 0.792, missense Z 0.873 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000323584 — one region, missense o/e 0.98. ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity (PMID:12876330)
• Analysis showed that the glycogen phosphorylase kinase beta-subunit (PHKB) interacted with the C-terminal region of KIAA1199 protein. (PMID:25051373)
• PHKb affects colorectal cancer cell growth and represents a novel prognostic biomarker. (PMID:28275865)
• PHKB acts as a novel prognostic indicator for HCC, which exerts its suppression function via inactivating AKT and STAT3. (PMID:31754332)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	phkb	ENSDARG00000078284
mus_musculus	Phkb	ENSMUSG00000036879
rattus_norvegicus	Phkb	ENSRNOG00000024101
drosophila_melanogaster	CG8475	FBGN0031995
caenorhabditis_elegans		WBGENE00022059

Paralogs (2): PHKA2 (ENSG00000044446), PHKA1 (ENSG00000067177)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:97578) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 25 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal liver morphology	1
enlarged liver	1
abnormal lens morphology	1
limb grasping	1
impaired righting response	1
increased circulating triglyceride level	1
abnormal coat/hair pigmentation	1
increased circulating ketone body level	1
decreased glycogen catabolism rate	1
increased circulating alanine transaminase level	1
increased circulating alkaline phosphatase level	1
increased liver weight	1
decreased lean body mass	1
increased circulating aspartate transaminase level	1
decreased circulating glucose level	1
abnormal enzyme/coenzyme activity	1
increased blood uric acid level	1
decreased liver triglyceride level	1
increased total body fat amount	1
decreased grip strength	1
increased liver glycogen level	1
preweaning lethality, incomplete penetrance	1
abnormal lipid metabolism	1
decreased fasting circulating glucose level	1
enhanced gluconeogenesis	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Oryctolagus cuniculus	P12798	95.2%	Diamond
Takifugu rubripes	Q9W6R1	70.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ITFG1	protein-coding	81533
LINC02133	ncRNA	101927132
ITFG1-AS2	ncRNA	101927080
ITFG1-AS1	ncRNA	101927102
LINC02192	ncRNA	100507534
LINC02134	ncRNA	105371238
NETO2	protein-coding	81831

Protein

Protein identifiers

Phosphorylase b kinase regulatory subunit beta — Q93100 (reviewed: Q93100)

All UniProt accessions (11): A0A0G2JLB9, A0A8Q3WM21, A0A8V8TNH3, Q93100, H3BQ89, H3BV13, I3L0Z1, I3L1N3, I3L213, I3L3F2, I3NHZ9

UniProt curated annotations — full annotation on UniProt →

Function. Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.

Subunit / interactions. Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin.

Subcellular location. Cell membrane.

Post-translational modifications. Ser-701 is probably phosphorylated by PKA. Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.

Disease relevance. Glycogen storage disease 9B (GSD9B) [MIM:261750] A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. By phosphorylation of various serine residues.

Pathway. Glycan biosynthesis; glycogen metabolism.

Similarity. Belongs to the phosphorylase b kinase regulatory chain family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q93100-1	1	yes
Q93100-2	2
Q93100-3	3
Q93100-4	4

RefSeq proteins (3): NP_000284, NP_001027005, NP_001350766 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008734	PHK_A/B_su	Family
IPR008928	6-hairpin_glycosidase_sf	Homologous_superfamily
IPR011613	GH15-like	Domain
IPR045583	KPBA/B_C	Domain

Pfam: PF00723, PF19292

Enzyme classification (BRENDA)

• EC 2.7.11.19 — phosphorylase kinase (BRENDA: 23 organisms, 150 substrates, 165 inhibitors, 89 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.018–0.95	16
PHOSPHORYLASE B	0.01–0.37	16
MGATP2-	0.07–0.1	9
S-PEPTIDE	0.21–0.28	2
SER-ASP-GLN-GLU-LYS-ARG-LYS-GLN-ILE-SER-VAL-ASP-	1.2–3.5	2
TETRADECAPEPTIDE	0.3085–0.47	2
GLYCOGEN PHOSPHORYLASE B	0.0093	1
GTP	0.6	1
MELITTIN	0.0098	1
SER-ASP-GLN-GLU-LYS-ARG-LYS-GLN-ILE-SER-VAL-ASP	2	1
UTP	1.4	1

UniProt features (132 total): helix 55, strand 34, turn 18, modified residue 8, sequence variant 6, region of interest 4, initiator methionine 3, splice variant 2, chain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDB	Title	Method	Resolution (Å)
8XYA	hPhK alpha-beta-gamma-delta subcomplex in inactive state	ELECTRON MICROSCOPY	2.7
8JFK	PhK holoenzyme in inactive state, muscle isoform	ELECTRON MICROSCOPY	2.9
8JFL	PhK holoenzyme in active state, muscle isoform	ELECTRON MICROSCOPY	2.9
8Z5P	human phosphorylase kinase - inactive state	ELECTRON MICROSCOPY	3.41
8Z5T	human phosphorylase kinase - phosphorylation and Ca2+ bound state	ELECTRON MICROSCOPY	3.74
8Z5Q	human phosphorylase kinase - inactive state	ELECTRON MICROSCOPY	4.24

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q93100-F1	87.06	0.64

Human Protein Atlas

Protein class: Metabolic proteins, Predicted intracellular proteins, Disease related genes, Human disease related genes, Congenital disorders of metabolism, Congenital disorders of carbohydrate metabolism

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus

Antibody reliability (HPA): IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (9)

Type	Positions
S-farnesyl cysteine	1090
N-acetylalanine	2, 2, 2
Phosphoserine	4, 4, 12, 27, 701

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-70221	Glycogen breakdown (glycogenolysis)	electronic
R-HSA-8982491	Glycogen metabolism	—
R-HSA-1430728	Metabolism	—
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives	—

MSigDB gene sets: 241 (showing top): PAX4_01, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_POLYSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, FUJII_YBX1_TARGETS_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, NRF2_01, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_TRANSFERASE_COMPLEX

GO Biological Process (4): glycogen metabolic process (GO:0005977), glycogen catabolic process (GO:0005980), generation of precursor metabolites and energy (GO:0006091), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (2): calmodulin binding (GO:0005516), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), plasma membrane (GO:0005886), phosphorylase kinase complex (GO:0005964)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Glycogen metabolism	1
Metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

13 GO namespaces:

Category	Terms
cytoplasm	2
energy reserve metabolic process	1
glucan metabolic process	1
glycogen metabolic process	1
glucan catabolic process	1
metabolic process	1
primary metabolic process	1
protein binding	1
binding	1
cellular anatomical structure	1
membrane	1
cell periphery	1
serine/threonine protein kinase complex	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
glycogen catabolic process	BP	direct assay

Protein interactions and networks

STRING

showing 15 of 912 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHKB	PHKG2	P11800	962
PHKB	PHKG1	Q16816	947
PHKB	PRKAG3	Q9UGI9	785
PHKB	PYGM	P11217	734
PHKB	GBE1	Q04446	703
PHKB	AGL	P35573	690
PHKB	CALM1	P02593	657
PHKB	PYGL	P06737	655
PHKB	A0A590UK56	A0A590UK56	655
PHKB	SLC37A4	O43826	598
PHKB	GYS2	P54840	569
PHKB	ITFG1	Q8TB96	520
PHKB	GYG1	P46976	492
PHKB	PYGB	P11216	490
PHKB	PGAM2	P15259	490

IntAct

Human interaction partners of PHKB in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

6 partners by confidence:

Partner	Interaction type	MIscore	Records
CAMK2B	physical association	0.560	3
PASK	phosphorylation reaction	0.560	2
CEMIP	physical association	0.500	1
VARS1	physical association	0.400	1
ADISSP	physical association	0.370	1
HNRNPC	physical association	0.370	1

BioGRID (86 interactions; top human partners by supporting records): PHKG2 (Affinity Capture-MS; 6 records), CALM1 (Reconstituted Complex; 3 records), DOK4 (Affinity Capture-MS; 3 records), MPPED1 (Affinity Capture-MS; 3 records), AURKB (Affinity Capture-MS; 2 records), CAMK2B (Two-hybrid; 2 records), HERC2 (Affinity Capture-MS; 2 records), LGALS3BP (Affinity Capture-MS; 2 records), PHKA2 (Two-hybrid; 2 records), TULP3 (Affinity Capture-MS; 2 records), VBP1 (Affinity Capture-MS; 2 records), ADAM17 (Affinity Capture-MS), BAP1 (Affinity Capture-MS), BRAF (Affinity Capture-MS), C20orf27 (Two-hybrid)

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
★ Phosphorylase kinase complex	4	CALM1, PHKA1, PHKB, PHKG1

Disease & clinical

Genetic variants

Variant evidence for PHKB: 1,215 ClinVar records (147 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

1,215 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	88
Likely pathogenic	59
Uncertain significance	380
Likely benign	551
Benign	33

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 147 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
13620	NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	5
1699565	NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
13617	NM_000293.3(PHKB):c.1265dup (p.Asn422fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
289493	NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
998116	NM_000293.3(PHKB):c.1364-2A>G	Pathogenic	criteria provided, multiple submitters, no conflicts	2
1683502	NM_000293.3(PHKB):c.573_577del (p.Gln191fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2501064	NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2637056	NM_000293.3(PHKB):c.2896-1G>T	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2966750	NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)	Pathogenic	criteria provided, single submitter	2
242718	NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter)	Pathogenic	criteria provided, single submitter	1
872459	NM_000293.3(PHKB):c.2196+2T>G	Pathogenic	criteria provided, single submitter	1
998114	NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del	Pathogenic	criteria provided, single submitter	1
998115	NM_000293.3:c.(?-1)(1068+1_1069-1)del	Pathogenic	criteria provided, single submitter	1
1070588	NM_000293.3(PHKB):c.2427+1045del	Pathogenic	criteria provided, single submitter	1
1455940	NM_000293.3(PHKB):c.2048dup (p.Ser684fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore PHKB’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 38 predictions of 3,153):

Position(s)	Effect	Δscore	Sites
16:47497397–47497398	acceptor_loss	1.0000	6
16:47497489–47497490	donor_loss	1.0000	5
16:47511659	acceptor_gain	1.0000
16:47511664	acceptor_loss	1.0000	2
16:47511773–47511774	donor_loss	1.0000	5
16:47515519–47515520	acceptor_loss	1.0000	6
16:47515603	donor_loss	1.0000	2
16:47580359–47580360	donor_loss	1.0000	5
16:47596532–47596533	donor_loss	1.0000	5
16:47597934	donor_gain	1.0000

AlphaMissense

2,812 missense substitutions predicted likely pathogenic (of 7,194 scored), across 716 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M185	9	0.844	0.987
D336	8	0.992	0.998
D590	8	0.986	0.995
D270	8	0.983	0.992
D268	8	0.970	0.983
F358	8	0.968	0.998
D669	8	0.966	0.986
N204	8	0.954	0.997
F979	8	0.954	0.995
D217	8	0.953	0.986
F255	8	0.953	0.997
D465	8	0.953	0.985
F305	8	0.943	0.996
D293	8	0.940	0.989
F580	8	0.929	0.981
N275	8	0.918	0.997
F71	8	0.908	0.988
F868	8	0.907	0.978
F941	8	0.899	0.988
F670	8	0.898	0.988

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	9.36e-06
Thyroid Carcinoma (TCGA)	unfavorable	0.000183
Breast Invasive Carcinoma (TCGA)	unfavorable	0.000826

Disease associations

OMIM: gene MIM:172490 | disease phenotypes: MIM:261750, MIM:232200

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
glycogen storage disease IXb	Strong	Autosomal recessive	4

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
glycogen storage disease IXb	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (8 panels, 8 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

8 panels:

Panel	Rating
Glycogen storage disease	green
Hypotonic infant	green
Ketotic hypoglycaemia	green
Leukodystrophy, childhood onset	green
Likely inborn error of metabolism	green
Paediatric disorders	green
Undiagnosed metabolic disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green

Mondo (4): glycogen storage disease IXb (MONDO:0009868), glycogen storage disease IX (MONDO:0700291), mitochondrial disease (MONDO:0044970), disorder of glycogen metabolism (MONDO:0002412)

Orphanet (4): Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (Orphanet:79240), Glycogen storage disease due to phosphorylase kinase deficiency (Orphanet:370), Mitochondrial disease (Orphanet:68380), Glycogen storage disease (Orphanet:79201)

HPO phenotypes

54 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000147	Polycystic ovaries
HP:0000750	Delayed speech and language development
HP:0000858	Irregular menstruation
HP:0000876	Oligomenorrhea
HP:0000939	Osteoporosis
HP:0001252	Hypotonia
HP:0001324	Muscle weakness
HP:0001394	Cirrhosis
HP:0001395	Hepatic fibrosis
HP:0001402	Hepatocellular carcinoma
HP:0001510	Growth delay
HP:0001744	Splenomegaly
HP:0001903	Anemia
HP:0001943	Hypoglycemia
HP:0001947	Renal tubular acidosis
HP:0001988	Recurrent hypoglycemia
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002018	Nausea
HP:0002149	Hyperuricemia
HP:0002155	Hypertriglyceridemia
HP:0002194	Delayed gross motor development
HP:0002240	Hepatomegaly
HP:0002719	Recurrent infections
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0002913	Myoglobinuria
HP:0003124	Hypercholesterolemia
HP:0003128	Lactic acidosis
HP:0003162	Fasting hypoglycemia
HP:0003201	Rhabdomyolysis
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase activity
HP:0003323	Progressive muscle weakness
HP:0003325	Limb-girdle muscle weakness
HP:0003326	Myalgia
HP:0003394	Muscle spasm
HP:0003546	Exercise intolerance
HP:0003593	Infantile onset
HP:0003749	Pelvic girdle muscle weakness
HP:0004322	Short stature
HP:0004324	Increased body weight
HP:0006568	Increased hepatic glycogen content
HP:0008897	Postnatal growth retardation
HP:0009051	Increased muscle glycogen content
HP:0011342	Mild global developmental delay
HP:0011463	Childhood onset
HP:0012028	Hepatocellular adenoma
HP:0012378	Fatigue
HP:0012379	Abnormal circulating enzyme concentration or activity
HP:0012734	Ketotic hypoglycemia
HP:0100607	Dysmenorrhea
HP:6000333	Reduced hepatic phosphorylase kinase activity
HP:6000832	Reduced tissue phosphorylase kinase activity

MeSH disease descriptors

3 disease descriptors:

Descriptor	Name	Tree numbers
D006008	Glycogen Storage Disease	C16.320.565.202.449; C18.452.648.202.449
C563008	Glycogen Storage Disease IXB *(supp.)*
C580130	Glycogen Storage Disease Type Ix *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2111324 (PROTEIN COMPLEX GROUP), CHEMBL3844 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (2 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5653589	KD	1440 nM

ChEMBL bioactivities

7 potent at pChembl≥5 of 10 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.30	IC50	0.5	nM	STAUROSPORINE
8.77	IC50	1.7	nM	K-252A
6.42	Kd	383.7	nM	CHEMBL5653589
6.42	ED50	383.7	nM	CHEMBL5653589
5.77	IC50	1688	nM	CHEMBL538718
5.42	IC50	3800	nM	CHEMBL538718

PubChem BioAssay actives

4 with measured affinity, of 49 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	159258: Inhibition of phosphorylase kinase.	ic50	0.0005	uM
methyl (15S,16R,18R)-16-hydroxy-15-methyl-3-oxo-28-oxa-4,14,19-triazaoctacyclo[12.11.2.115,18.02,6.07,27.08,13.019,26.020,25]octacosa-1,6,8,10,12,20,22,24,26-nonaene-16-carboxylate	1405290: Inhibition of phosphorylase kinase (unknown origin)	ic50	0.0017	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148998: Binding affinity to human PHKB incubated for 45 mins by Kinobead based pull down assay	kd	0.3837	uM

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	4
Acetaminophen	decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression	1
S-1,2-dichlorovinyl-N-acetylcysteine	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
picoxystrobin	decreases expression	1
Bortezomib	increases expression	1
Sunitinib	decreases expression	1
Vorinostat	affects expression	1
Air Pollutants	decreases expression	1
Antimycin A	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases expression, increases abundance	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Nickel	decreases expression	1

ChEMBL screening assays

21 unique, capped per target: 21 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1020729	Binding	Inhibition of human PHK at 10 umol/L	Design, synthesis, and evaluation of indolinones as triple angiokinase inhibitors and the discovery of a highly specific 6-methoxycarbonyl-substituted indolinone (BIBF 1120). — *J Med Chem*

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D7WY	Ubigene A-549 PHKB KO	Cancer cell line	Male
CVCL_D8SA	Ubigene HCT 116 PHKB KO	Cancer cell line	Male
CVCL_D9MS	Ubigene HEK293 PHKB KO	Transformed cell line	Female
CVCL_E0K6	Ubigene HeLa PHKB KO	Cancer cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 137 trials:

NCT	Phase	Status	Title
NCT03351998	Phase 4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT07652814	Phase 4	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years
NCT00432744	Phase 3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	Phase 3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	Phase 3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02782741	Phase 3	COMPLETED	Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies Avalglucosidase Alfa and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease
NCT04808505	Phase 3	RECRUITING	A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
NCT02398201	Phase 2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	Phase 2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	Phase 2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	Phase 2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	Phase 2	COMPLETED	The KHENERGY Study
NCT02976038	Phase 2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	Phase 2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	Phase 2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	Phase 2	COMPLETED	The KHENERGYZE Study
NCT04604548	Phase 2	COMPLETED	The KHENEREXT Study
NCT04802707	Phase 2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	Phase 2	SUSPENDED	The KHENERGYC Study
NCT05650229	Phase 2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	Phase 2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	Phase 2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	Phase 2	RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT00765414	Phase 2	COMPLETED	Extension Study of Long-term Safety and Efficacy of Myozyme for a Single Patient With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored ERT Studies.
NCT02032524	Phase 2	COMPLETED	Avalglucosidase Alfa Extension Study
NCT03019406	Phase 2	ACTIVE_NOT_RECRUITING	A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa
NCT06130228	Phase 2	UNKNOWN	Nutritional Therapy in Late-onset Pompe Disease
NCT00060515	Phase 1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	Phase 1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	Phase 1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	Phase 1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	Phase 1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	Phase 1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	Phase 1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	Phase 1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	Phase 1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	Phase 1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT03655223	Not specified	ACTIVE_NOT_RECRUITING	Early Check: Expanded Screening in Newborns
NCT04454216	Not specified	RECRUITING	GSD VI and GSD IX Natural History
NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
NCT04378075	Phase 2/3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	Phase 1/2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	Phase 1/2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
NCT06051448	Phase 1/2	COMPLETED	Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
NCT01252979	Early Phase 1	COMPLETED	Ketones & Mitochondrial Heteroplasmy
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NCT01001585	Not specified	TERMINATED	Anesthetic Effects in Mitochondrial Disease
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NCT01370447	Not specified	NO_LONGER_AVAILABLE	EPI-743 for Mitochondrial Respiratory Chain Diseases
NCT01694940	Not specified	RECRUITING	North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
NCT01776918	Not specified	COMPLETED	Energy Requirements in Mitochondrial Disease
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NCT01803906	Not specified	ENROLLING_BY_INVITATION	Tissue Sample Study for Mitochondrial Disorders
NCT02000284	Not specified	ACTIVE_NOT_RECRUITING	Mitochondrial Dysfunction in Autism Spectrum Disorder
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Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for PHKB across ~30M SureChEMBL compounds — explore on Sugi Predict.