MMAB

Summary

MMAB (metabolism of cobalamin associated B, HGNC:19331) is a protein-coding gene on chromosome 12q24.11, encoding Corrinoid adenosyltransferase MMAB (Q96EY8). Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion.

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found.

Source: NCBI Gene 326625 — RefSeq curated summary.

At a glance

• Gene–disease (curated): methylmalonic aciduria, cblB type (Definitive, ClinGen)
• GWAS associations: 29 (top 4% of genes corpus-wide)
• Clinical variants (ClinVar): 610 total — 52 pathogenic, 44 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 37 tissues, sQTL in 50 (q < 0.05)
• Phenotypes (HPO): 34
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.87 (unconstrained)
• MANE Select transcript: NM_052845

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19331
Approved symbol	MMAB
Name	metabolism of cobalamin associated B
Location	12q24.11
Locus type	gene with protein product
Status	Approved
Aliases	cblB, CFAP23
Ensembl gene	ENSG00000139428
Ensembl biotype	protein_coding
OMIM	607568
Entrez	326625

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 29 nonsense_mediated_decay, 16 protein_coding, 2 retained_intron

MANE Select: ENST00000545712

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 3, TSL 3: 4, TSL 4: 1, TSL 5: 1

ENST00000545712, ENST00000420167, ENST00000503497, ENST00000536760, ENST00000537236, ENST00000537496, ENST00000540016, ENST00000541763, ENST00000542390, ENST00000544051, ENST00000878519, ENST00000878520, ENST00000985155, ENST00000985156, ENST00000985157, ENST00000985158, ENST00000985159, ENST00000985160, ENST00000985161, ENST00000985162, ENST00000985163, ENST00000985164, ENST00000985165, ENST00000985166, ENST00000985167, ENST00000985168, ENST00000985169, ENST00000985171, ENST00000985172, ENST00000985173, ENST00000985174, ENST00000985175, ENST00000985176, ENST00001030013, ENST00001030014, ENST00001030015, ENST00001030016, ENST00001090255, ENST00001090256, ENST00001092480, ENST00001111280, ENST00001111281, ENST00001118748, ENST00001118749, ENST00001129655, ENST00001129656, ENST00001139899

RefSeq mRNA: 1 — MANE Select: NM_052845 NM_052845

CCDS: CCDS9131

Canonical transcript exons

ENST00000545712 — 9 exons

Exon	Start	End
ENSE00002267773	109553715	109557136
ENSE00003481491	109561420	109561517
ENSE00003541962	109568770	109568863
ENSE00003546036	109561780	109561852
ENSE00003583295	109571649	109571710
ENSE00003587859	109573347	109573504
ENSE00003671438	109559096	109559155
ENSE00003672319	109561040	109561104
ENSE00003688708	109565119	109565176

Expression profiles

Bgee: expression breadth ubiquitous, 235 present calls, max score 97.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.4007 / max 250.7676, expressed in 1802 samples.

Highest expression (Bgee): lobe of liver, adrenal gland cortex, adrenal gland, adrenal tissue, adrenal cortex.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MMAB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 37 tissues and its splicing (sQTL) in 50 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 87 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Muscle Skeletal	sqtl	1.1e-228	+1.71	12:109561263:G:A
Esophagus Mucosa	sqtl	1.9e-217	-1.98	12:109570134:A:G
Thyroid	sqtl	6.7e-208	+1.78	12:109561263:G:A
Cells Cultured fibroblasts	sqtl	6.7e-189	+1.71	12:109554344:C:G
Skin Not Sun Exposed Suprapubic	sqtl	1.1e-187	-1.84	12:109570134:A:G
Skin Sun Exposed Lower leg	sqtl	7.8e-187	-1.76	12:109561232:G:A
Artery Tibial	sqtl	1.1e-182	+1.72	12:109561263:G:A
Adipose Subcutaneous	sqtl	9.7e-181	-1.75	12:109561263:G:A
Esophagus Muscularis	sqtl	7.0e-163	+1.71	12:109564328:C:T
Nerve Tibial	sqtl	6.8e-152	+1.71	12:109561263:G:A
Adipose Visceral Omentum	sqtl	2.3e-151	+1.74	12:109560042:C:T
Heart Atrial Appendage	sqtl	3.4e-141	+1.78	12:109560042:C:T
Colon Transverse	sqtl	4.5e-140	+1.73	12:109564328:C:T
Heart Left Ventricle	sqtl	2.4e-135	+1.75	12:109561263:G:A
Breast Mammary Tissue	sqtl	6.3e-126	+1.74	12:109581533:C:T
Lung	sqtl	1.4e-116	-1.78	12:109562943:G:A
Esophagus Gastroesophageal Junction	sqtl	1.2e-115	+1.75	12:109561263:G:A
Testis	sqtl	1.4e-113	+1.78	12:109560042:C:T
Stomach	sqtl	4.4e-110	-1.79	12:109561263:G:A
Colon Sigmoid	sqtl	1.0e-107	+1.68	12:109560042:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
133194	25.4007	1802

Top tissues by expression

showing 100 of 247 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	97.41	gold quality
right adrenal gland cortex	UBERON:0035827	97.11	gold quality
right adrenal gland	UBERON:0001233	96.82	gold quality
left adrenal gland	UBERON:0001234	96.06	gold quality
left adrenal gland cortex	UBERON:0035825	95.99	gold quality
adrenal tissue	UBERON:0018303	95.21	gold quality
adrenal gland	UBERON:0002369	95.05	gold quality
adrenal cortex	UBERON:0001235	94.83	gold quality
apex of heart	UBERON:0002098	94.71	gold quality
liver	UBERON:0002107	94.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.45	gold quality
pancreatic ductal cell	CL:0002079	94.26	silver quality
mucosa of transverse colon	UBERON:0004991	94.25	gold quality
lower esophagus mucosa	UBERON:0035834	93.04	gold quality
esophagus mucosa	UBERON:0002469	92.87	gold quality
right atrium auricular region	UBERON:0006631	92.56	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.25	gold quality
left lobe of thyroid gland	UBERON:0001120	92.22	gold quality
heart left ventricle	UBERON:0002084	92.18	gold quality
right lobe of thyroid gland	UBERON:0001119	92.13	gold quality
spinal cord	UBERON:0002240	92.10	gold quality
body of pancreas	UBERON:0001150	92.05	gold quality
cardiac atrium	UBERON:0002081	91.77	gold quality
cardiac ventricle	UBERON:0002082	91.71	gold quality
endothelial cell	CL:0000115	91.60	gold quality
adenohypophysis	UBERON:0002196	91.53	gold quality
adult mammalian kidney	UBERON:0000082	91.45	gold quality
ventricular zone	UBERON:0003053	91.45	gold quality
thyroid gland	UBERON:0002046	91.32	gold quality
buccal mucosa cell	CL:0002336	91.30	gold quality
muscle of leg	UBERON:0001383	91.12	gold quality
gastrocnemius	UBERON:0001388	91.04	gold quality
prefrontal cortex	UBERON:0000451	90.97	gold quality
heart	UBERON:0000948	90.92	gold quality
right ovary	UBERON:0002118	90.90	gold quality
left ovary	UBERON:0002119	90.82	gold quality
body of stomach	UBERON:0001161	90.75	gold quality
esophagus	UBERON:0001043	90.74	gold quality
right uterine tube	UBERON:0001302	90.64	gold quality
metanephros cortex	UBERON:0010533	90.44	gold quality
anterior cingulate cortex	UBERON:0009835	90.14	gold quality
hypothalamus	UBERON:0001898	90.10	gold quality
minor salivary gland	UBERON:0001830	90.07	gold quality
pituitary gland	UBERON:0000007	89.97	gold quality
transverse colon	UBERON:0001157	89.83	gold quality
upper lobe of left lung	UBERON:0008952	89.78	gold quality
skin of abdomen	UBERON:0001416	89.67	gold quality
left coronary artery	UBERON:0001626	89.50	gold quality
pancreas	UBERON:0001264	89.49	gold quality
amygdala	UBERON:0001876	89.42	gold quality
tibial nerve	UBERON:0001323	89.34	gold quality
right frontal lobe	UBERON:0002810	89.29	gold quality
ganglionic eminence	UBERON:0004023	89.09	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.09	gold quality
saliva-secreting gland	UBERON:0001044	89.07	gold quality
right lung	UBERON:0002167	89.00	gold quality
kidney epithelium	UBERON:0004819	89.00	silver quality
upper lobe of lung	UBERON:0008948	88.99	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.99	gold quality
lower esophagus	UBERON:0013473	88.79	gold quality
prostate gland	UBERON:0002367	88.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.74	gold quality
omental fat pad	UBERON:0010414	88.72	gold quality
mouth mucosa	UBERON:0003729	88.68	gold quality
peritoneum	UBERON:0002358	88.67	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.65	gold quality
skin of leg	UBERON:0001511	88.59	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.53	gold quality
metanephros	UBERON:0000081	88.47	gold quality
tibial artery	UBERON:0007610	88.46	gold quality
popliteal artery	UBERON:0002250	88.44	gold quality
coronary artery	UBERON:0001621	88.43	gold quality
stomach	UBERON:0000945	88.29	gold quality
body of uterus	UBERON:0009853	88.16	gold quality
aorta	UBERON:0000947	88.11	gold quality
ascending aorta	UBERON:0001496	87.95	gold quality
thoracic aorta	UBERON:0001515	87.94	gold quality
calcaneal tendon	UBERON:0003701	87.92	gold quality
ectocervix	UBERON:0012249	87.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.83	gold quality
ovary	UBERON:0000992	87.79	gold quality
putamen	UBERON:0001874	87.68	gold quality
small intestine	UBERON:0002108	87.57	gold quality
zone of skin	UBERON:0000014	87.53	gold quality
descending thoracic aorta	UBERON:0002345	87.38	gold quality
neocortex	UBERON:0001950	87.29	gold quality
right coronary artery	UBERON:0001625	87.20	gold quality
left uterine tube	UBERON:0001303	87.19	gold quality
nucleus accumbens	UBERON:0001882	87.15	gold quality
cortex of kidney	UBERON:0001225	87.09	gold quality
frontal cortex	UBERON:0001870	87.00	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.98	gold quality
islet of Langerhans	UBERON:0000006	86.92	gold quality
adipose tissue	UBERON:0001013	86.91	gold quality
substantia nigra	UBERON:0002038	86.85	gold quality
caudate nucleus	UBERON:0001873	86.84	gold quality
subcutaneous adipose tissue	UBERON:0002190	86.82	gold quality
endocervix	UBERON:0000458	86.79	gold quality
kidney	UBERON:0002113	86.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Liver	tissue	44.1	high
Adrenal gland	tissue	23.4	high
Pituitary gland	tissue	20.0
Epididymis	tissue	19.9	high
Frontal cortex	tissue	18.8
Locus coeruleus	tissue	18.2
Choroid plexus	tissue	18.0
Caudate putamen	tissue	17.5
Heart muscle	tissue	16.3	medium
Pancreas	tissue	15.6	high
Tongue	tissue	15.1
Prostate	tissue	14.3	high
Nucleus accumbens	tissue	14.0
Vagina	tissue	13.9	medium
Salivary gland	tissue	13.9	high
Ovary	tissue	13.4	high
Skeletal muscle	tissue	13.2	low
Hippocampus	tissue	12.8	medium
Kidney	tissue	12.4	high
Duodenum	tissue	12.2	high
Postcentral gyrus	tissue	12.1
Breast	tissue	11.7	high
Colon	tissue	11.5	high
Esophagus	tissue	10.9	medium
Stomach 1	tissue	9.9	high
Parathyroid gland	tissue	9.2	high
Thyroid gland	tissue	9.2	high
Lung	tissue	9.2	high
Fallopian tube	tissue	8.8	medium
Spinal cord	tissue	8.7
Small intestine	tissue	7.9	high
Corpus callosum	tissue	7.9
Rectum	tissue	7.4	high
Retina	tissue	6.8
Endometrium 1	tissue	6.8	medium
Testis	tissue	6.5	high
Skin 1	tissue	6.4	medium
Medulla oblongata	tissue	6.4
Adipose tissue	tissue	6.3	not detected
Spleen	tissue	6.2	medium
Tonsil	tissue	6.1	medium
Appendix	tissue	6.0	medium
Pons	tissue	5.9
Seminal vesicle	tissue	5.9	high
Lymph node	tissue	5.8	medium
Midbrain	tissue	5.7
Gallbladder	tissue	5.7	medium
Bone marrow	tissue	5.5	not detected
Periaqueductal gray	tissue	5.4
Thalamus	tissue	5.3
Substantia nigra	tissue	5.3
Smooth muscle	tissue	5.2	not detected
Hypothalamus	tissue	5.1
Thymus	tissue	5.1
Cervix	tissue	4.9	not detected
Superior colliculi	tissue	4.6
Placenta	tissue	4.6	medium
Urinary bladder	tissue	4.2	high
Septum	tissue	3.8
Olfactory bulb	tissue	3.6

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Parieto-temporal junction (white matter) (25.6), Nucleus raphe obscurus (25.4), Temporal white matter (24.7), Cerebellar white matter (24.4), Ventral medullary reticular nucleus (23.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 142 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-605-3P	99.88	69.22	1833

Functional genomics

gnomAD constraint: pLI 0.000898, LOEUF 0.874, missense Z 0.293 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000545712 — one region, missense o/e 0.94. ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 17)

• report the identification of ATR cDNA as well as the corresponding gene; ATR expression is altered in cell lines derived from cblB methylmalonyl aciduria patients; propose that inborn errors in the ATR gene identified here result in methylmalonyl aciduria (PMID:12514191)
• Results describe two common polymorphic variants of ATP:cob(I)alamin adenosyltransferase that are found in normal individuals, and their interactions with methionine synthase reductase. (PMID:15347655)
• Mutations in methylmalonic aciduria type B protein is associated with methylmalonic acidemia (PMID:17410422)
• Long-term outcome in methylmalonic acidurias is influenced by the underlying genetic defects in MCM/MMAA/MMAB. (PMID:17597648)
• Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PMID:17957493)
• Results functionally defined the hATR active site and tentatively implicated three amino acid residues in facilitating the reduction of cob(II)alamin to cob(I)alamin which is a prerequisite to adenosylation. (PMID:18251506)
• homozygotes for the major allele (G) at MMAB_3U3527G–>C had higher LDL-cholesterol concentrations than did carriers of the minor allele (P = 0.034). (PMID:19605566)
• Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder (PMID:19625202)
• These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. (PMID:20159775)
• c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. (PMID:20556797)
• Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation. (PMID:21604717)
• MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. (PMID:23707710)
• These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. (PMID:27716295)
• MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity (PMID:29190729)
• analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type (PMID:29197662)
• A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism. (PMID:31203192)
• MMAB promotes negative feedback control of cholesterol homeostasis. (PMID:34750386)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mmab	ENSDARG00000068344
mus_musculus	Mmab	ENSMUSG00000029575
rattus_norvegicus	Mmab	ENSRNOG00000049426
caenorhabditis_elegans		WBGENE00016144

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1924947) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal spleen morphology	1
prolonged RR interval	1
preweaning lethality, complete penetrance	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
Mycobacterium tuberculosis variant bovis AF2122/97	P64804	100.0%	Diamond
Mycobacterium tuberculosis CDC1551	P9WP98	100.0%	Diamond
Mycobacterium tuberculosis H37Rv	P9WP99	100.0%	Diamond
Bos taurus	Q58D49	85.7%	Diamond
Citrobacter freundii	B1VB74	83.0%	Diamond
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2	Q8ZNR5	83.0%	Diamond
Mycobacterium leprae TN	P53523	81.2%	Diamond
Cupriavidus metallidurans CH34	Q1LJ80	48.4%	Diamond
Bacillus subtilis subsp. subtilis str. 168	O34899	47.8%	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
MIR4497	ncRNA	100616454
MVK	protein-coding	4598
TRPV4	protein-coding	59341
FAM222A	protein-coding	84915
FAM222A-AS1	ncRNA	84983
KCTD10	protein-coding	83892
UBE3B	protein-coding	89910
LINC01486	ncRNA	101928138
FOXN4	protein-coding	121643
MYO1H	protein-coding	283446

Protein

Protein identifiers

Corrinoid adenosyltransferase MMAB — Q96EY8 (reviewed: Q96EY8)

Alternative names: ATP:co(I)rrinoid adenosyltransferase MMAB, Methylmalonic aciduria type B protein

All UniProt accessions (7): A0A087X114, Q96EY8, F5H079, F5H0C1, F5H4Z7, S4R3P5, S4R3Z1

UniProt curated annotations — full annotation on UniProt →

Function. Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA.

Subunit / interactions. Homotrimer.

Subcellular location. Mitochondrion.

Tissue specificity. Expressed in liver and skeletal muscle.

Disease relevance. Methylmalonic aciduria, cblB type (MACB) [MIM:251110] An autosomal recessive disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the Cob(I)alamin adenosyltransferase family.

RefSeq proteins (1): NP_443077* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016030	CblAdoTrfase-like	Domain
IPR029499	PduO-typ	Family
IPR036451	CblAdoTrfase-like_sf	Homologous_superfamily

Pfam: PF01923

Enzyme classification (BRENDA)

• EC 2.5.1.17 — corrinoid adenosyltransferase (BRENDA: 19 organisms, 110 substrates, 35 inhibitors, 133 Km, 193 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ATP	0.0003–1.3	59
COB(I)ALAMIN	0.0001–0.06	46
COB(II)ALAMIN	0.0078–0.134	7
CYANOCOB(I)ALAMIN	0.01	2
HYDROXOCOBALAMIN	0.003–0.004	2
2’-DEOXY-ATP	0.0016	1
COB(I)INAMIDE	0.0001	1
COB(II)INAMIDE	0.0163	1
CTP	22	1
DATP	0.14	1
GTP	1.16	1
ITP	29	1
UTP	40	1

Catalyzed reactions (Rhea)

• cob(I)alamin-[corrinoid adenosyltransferase] + ATP = apo-[corrinoid adenosyltransferase] + adenosylcob(III)alamin + triphosphate (RHEA:56796)

UniProt features (32 total): sequence variant 8, helix 8, binding site 5, modified residue 4, turn 2, strand 2, transit peptide 1, chain 1, region of interest 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDB	Title	Method	Resolution (Å)
7RUT	Structure of Human ATP:Cobalamin Adenosyltransferase R190C bound to ATP	X-RAY DIFFRACTION	1.5
7RUU	Structure of Human ATP:Cobalamin Adenosyltransferase R190C bound to adenosylcobalamin	X-RAY DIFFRACTION	1.85
7RUV	Structure of Human ATP:Cobalamin Adenosyltransferase E193K bound to adenosylcobalamin	X-RAY DIFFRACTION	2.1
6D5X	Structure of Human ATP:Cobalamin Adenosyltransferase bound to ATP, Adenosylcobalamin, and …	X-RAY DIFFRACTION	2.4
2IDX	Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.	X-RAY DIFFRACTION	2.5
6D5K	Structure of Human ATP:Cobalamin Adenosyltransferase bound to ATP, and Adenosylcobalamin	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EY8-F1	82.39	0.67

Human Protein Atlas

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

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): mitochondria

Antibody reliability (HPA): IH supported · 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.

Ligand- & substrate-binding residues (5)

Position	Role
60–63	ATP
68–69	ATP
78	ATP
190–194	ATP
214	ATP

Post-translational modifications (4)

Type	Positions
N6-acetyllysine	230
N6-succinyllysine	230, 211
Phosphoserine	134

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 10; 5 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

10 pathways:

ID	Pathway	Evidence
R-HSA-3359471	Defective MMAB causes MMA, cblB type ⚕	curated
R-HSA-9759218	Cobalamin (Cbl) metabolism	curated
R-HSA-3296469	Defects in cobalamin (B12) metabolism ⚕	—
R-HSA-3296482	Defects in vitamin and cofactor metabolism ⚕	—
R-HSA-1643685	Disease ⚕	—
R-HSA-5668914	Diseases of metabolism ⚕	—
R-HSA-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	—
R-HSA-1430728	Metabolism	—
R-HSA-196854	Metabolism of vitamins and cofactors	—
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	—

MSigDB gene sets: 688 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, RNGTGGGC_UNKNOWN, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, KOBAYASHI_EGFR_SIGNALING_24HR_UP, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_TOLERANCE_INDUCTION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT

GO Biological Process (1): cobalamin metabolic process (GO:0009235)

GO Molecular Function (7): ATP binding (GO:0005524), corrinoid adenosyltransferase activity (GO:0008817), transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765), cobalamin binding (GO:0031419), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

8 top-level categories:

Category	Pathways
Defects in cobalamin (B12) metabolism	1
Cobalamin (Cbl, vitamin B12) transport and metabolism	1
Metabolism of water-soluble vitamins and cofactors	1
Metabolism of vitamins and cofactors	1
Metabolism	1
Defects in vitamin and cofactor metabolism	1
Diseases of metabolism	1
Disease	1

GO top-level categories

16 GO namespaces:

Category	Terms
heterocyclic compound binding	2
tetrapyrrole metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
transferase activity, transferring alkyl or aryl (other than methyl) groups	1
transferase activity	1
vitamin binding	1
tetrapyrrole binding	1
nucleoside phosphate binding	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 10 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

GO term	NS	Evidence
cobalamin metabolic process	BP	direct assay
mitochondrion	CC	high-throughput
cobalamin binding	MF	direct assay
corrinoid adenosyltransferase activity	MF	direct assay
transferase activity, transferring alkyl or aryl (other than methyl) groups	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,002 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MMAB	MMAA	Q8IVH4	991
MMAB	MMADHC	Q9H3L0	978
MMAB	MMUT	P22033	971
MMAB	LMBRD1	Q9NUN5	968
MMAB	MMACHC	Q9Y4U1	945
MMAB	CD320	Q9NPF0	852
MMAB	MTR	Q99707	814
MMAB	CBL	P22681	805
MMAB	MTRR	Q9UBK8	801
MMAB	MCEE	Q96PE7	770
MMAB	PCCB	P05166	692
MMAB	ACSF3	Q4G176	634
MMAB	PCCA	P05165	604
MMAB	ABCD4	O14678	601
MMAB	MVK	Q03426	600

IntAct

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

10 partners by confidence:

Partner	Interaction type	MIscore	Records
DBT	physical association	0.620	2
CALR	physical association	0.560	3
CBY2	physical association	0.560	3
DLST	physical association	0.560	3
NEK7	physical association	0.560	3
OPTN	physical association	0.560	3
PMPCB	association	0.530	1
DPYSL4	association	0.350	1
RNF151	association	0.350	1
TNNT1	association	0.350	1

BioGRID (150 interactions; top human partners by supporting records): MRRF (Affinity Capture-MS; 3 records), CLPP (Proximity Label-MS; 2 records), CS (Proximity Label-MS; 2 records), GRSF1 (Proximity Label-MS; 2 records), HSCB (Affinity Capture-MS; 2 records), ICT1 (Proximity Label-MS; 2 records), OXLD1 (Affinity Capture-MS; 2 records), PMPCA (Proximity Label-MS; 2 records), PMPCB (Proximity Label-MS; 2 records), SPERT (Two-hybrid; 2 records), TEKT2 (Affinity Capture-MS; 2 records), TRMT61B (Affinity Capture-MS; 2 records), AARS2 (Proximity Label-MS), ACAD9 (Proximity Label-MS), ACE2 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for MMAB: 610 ClinVar records (96 pathogenic / likely pathogenic); 29 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	52
Likely pathogenic	44
Uncertain significance	175
Likely benign	222
Benign	56

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 96 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
218324	NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	Pathogenic	criteria provided, multiple submitters, no conflicts	14
219008	NM_052845.4(MMAB):c.197-1G>T	Pathogenic	criteria provided, multiple submitters, no conflicts	14
219004	NM_052845.4(MMAB):c.291-1G>A	Pathogenic	criteria provided, multiple submitters, no conflicts	11
203820	NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	10
203819	NM_052845.4(MMAB):c.569G>A (p.Arg190His)	Pathogenic	criteria provided, multiple submitters, no conflicts	7
550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	7
219006	NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)	Pathogenic	criteria provided, multiple submitters, no conflicts	6
1173993	NM_052845.4(MMAB):c.367del (p.Asp123fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	4
1068489	NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1174002	NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
1451421	NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
2749351	NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
445684	NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	7
218327	NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	4
648669	NM_052845.4(MMAB):c.581_582del (p.Arg194fs)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2

Per-variant reference — Sugi Variant

Explore MMAB’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; 32 predictions of 790):

Position(s)	Effect	Δscore	Sites
12:109561038	donor_loss	1.0000	2
12:109561527–109561528	acceptor_gain	1.0000	2
12:109561783	donor_gain	1.0000
12:109559094–109559095	donor_loss	0.9900	6
12:109561039	donor_loss	0.9900	3
12:109561105–109561106	acceptor_loss	0.9900	5
12:109561418–109561419	donor_loss	0.9900	6
12:109561518–109561519	acceptor_loss	0.9900	4
12:109561792	donor_gain	0.9900
12:109559096	donor_loss	0.9800	2

AlphaMissense

409 missense substitutions predicted likely pathogenic (of 1,610 scored), across 119 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
D218	8	0.924	0.974
F170	8	0.907	0.992
D90	8	0.888	0.950
D64	8	0.876	0.946
N214	8	0.866	0.967
F83	8	0.864	0.971
F221	7	0.952	0.987
S217	7	0.893	0.985
E193	7	0.871	0.970
E91	7	0.869	0.941
E235	7	0.769	0.867
R215	6	0.956	0.979
K78	6	0.940	0.981
R225	6	0.932	0.975
R190	6	0.858	0.977
R194	6	0.857	0.954
G66	6	0.838	0.915
C189	6	0.835	0.985
E154	6	0.801	0.893
H183	6	0.798	0.916

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:607568 | disease phenotypes: MIM:251110, MIM:251000, MIM:175900

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
methylmalonic aciduria, cblB type	Definitive	Autosomal recessive	6

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
methylmalonic aciduria, cblB type	Definitive	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (9 panels, 9 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

9 panels:

Panel	Rating
DDG2P	green
Hyperammonaemia	green
Hypotonic infant	green
Intellectual disability	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 (3): methylmalonic aciduria, cblB type (MONDO:0009614), methylmalonic acidemia (MONDO:0002012), porokeratosis 3, disseminated superficial actinic type (MONDO:0008293)

Orphanet (2): Vitamin B12-responsive methylmalonic acidemia (Orphanet:28), Vitamin B12-responsive methylmalonic acidemia type cblB (Orphanet:79311)

HPO phenotypes

34 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001644	Dilated cardiomyopathy
HP:0001873	Thrombocytopenia
HP:0001875	Decreased total neutrophil count
HP:0001876	Pancytopenia
HP:0001903	Anemia
HP:0001942	Metabolic acidosis
HP:0001943	Hypoglycemia
HP:0001944	Dehydration
HP:0001946	Ketosis
HP:0001987	Hyperammonemia
HP:0002013	Vomiting
HP:0002098	Respiratory distress
HP:0002154	Hyperglycinemia
HP:0002194	Delayed gross motor development
HP:0002240	Hepatomegaly
HP:0002912	Methylmalonic acidemia
HP:0002919	Ketonuria
HP:0003145	Decreased circulating adenosylcobalamin concentration
HP:0003210	Decreased methylmalonyl-CoA mutase activity
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0004341	Abnormal vitamin B12 concentration
HP:0008872	Feeding difficulties in infancy
HP:0011463	Childhood onset
HP:0012120	Methylmalonic aciduria
HP:0032988	Persistent head lag
HP:0033443	Elevated circulating propionylcarnitine concentration
HP:0035024	Elevated circulating methylmalonylcarnitine concentration

GWAS associations

29 associations:

Study	Trait	p-value
GCST010241_83	Apolipoprotein A1 levels	3e-29
GCST009367_26	HDL cholesterol levels x short total sleep time interaction (2df test)	2e-20
GCST010142_53	Fish- and plant-related diet	2e-19
GCST011348_61	High density lipoprotein cholesterol levels	6e-18
GCST010135_28	Oily fish consumption	7e-17
GCST010140_4	Pork consumption	7e-17
GCST009367_22	HDL cholesterol levels x short total sleep time interaction (2df test)	2e-16
GCST009367_24	HDL cholesterol levels x short total sleep time interaction (2df test)	2e-16
GCST90002404_516	Red cell distribution width	2e-15
GCST000755_40	HDL cholesterol	7e-15
GCST009367_27	HDL cholesterol levels x short total sleep time interaction (2df test)	5e-14
GCST009368_6	HDL cholesterol levels x long total sleep time interaction (2df test)	2e-13
GCST009367_21	HDL cholesterol levels x short total sleep time interaction (2df test)	4e-13
GCST009367_23	HDL cholesterol levels x short total sleep time interaction (2df test)	4e-13
GCST010142_72	Fish- and plant-related diet	4e-13
GCST010142_60	Fish- and plant-related diet	5e-13
GCST009367_25	HDL cholesterol levels x short total sleep time interaction (2df test)	3e-11
GCST010134_6	Non-oily fish consumption	6e-11
GCST010135_36	Oily fish consumption	6e-11
GCST010140_12	Pork consumption	6e-11
GCST000290_10	HDL cholesterol	1e-10
GCST90002394_152	Monocyte percentage of white cells	7e-10
GCST002899_15	HDL cholesterol	9e-10
GCST000135_3	HDL cholesterol	3e-8
GCST010142_93	Fish- and plant-related diet	4e-8
GCST90013423_6	Age-related nuclear cataracts	2e-7
GCST002498_12	Age-related nuclear cataracts	6e-7
GCST000805_11	HDL cholesterol	3e-6
GCST006052_4	Polymyositis	4e-6

EFO canonical traits (from GWAS)

5 canonical traits:

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0007989	monocyte percentage of leukocytes
EFO:0009188	Red cell distribution width

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
C537358	Methylmalonic acidemia *(supp.)*
C536339	Porokeratosis, disseminated superficial actinic 1 *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066327 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 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

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.42	Kd	376.2	nM	CHEMBL5653589
6.24	ED50	574.5	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148757: Binding affinity to human MMAB incubated for 45 mins by Kinobead based pull down assay	kd	0.3762	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, affects cotreatment, increases expression	6
Benzo(a)pyrene	decreases expression, increases methylation	4
Aflatoxin B1	affects expression, decreases expression, decreases methylation, increases methylation	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
mercuric bromide	decreases expression, affects cotreatment	2
Leflunomide	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Cyclosporine	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
afuresertib	increases expression	1
bisphenol F	increases expression	1
methylmercuric chloride	decreases expression	1
dodecyldimethylamine oxide	increases expression	1
arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects response to substance, increases abundance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651799	Binding	Binding affinity to human MMAB incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — *ChemMedChem*

Cellosaurus cell lines

6 cell lines: 4 finite cell line, 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B3UH	WG2147	Finite cell line
CVCL_B3UI	WG3293	Finite cell line
CVCL_B3UJ	WG3332	Finite cell line
CVCL_B3UK	WG1641	Finite cell line
CVCL_VF02	UAMi002-A	Induced pluripotent stem cell	Female
CVCL_VF03	UAMi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

43 trials:

NCT	Phase	Status	Title
NCT02426775	Phase 3	COMPLETED	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
NCT07163364	Phase 3	NOT_YET_RECRUITING	A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
NCT05139316	Phase 3	COMPLETED	A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
NCT01341379	Phase 2	WITHDRAWN	Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
NCT01597440	Phase 2	TERMINATED	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
NCT01599286	Phase 2	COMPLETED	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
NCT04732429	Phase 2	TERMINATED	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT00442182	Phase 2	UNKNOWN	The Efficacy and Safety of ITF2357 in AIS
NCT04836494	Phase 1	TERMINATED	A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
NCT03810690	Phase 1/2	WITHDRAWN	Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia
NCT04581785	Phase 1/2	TERMINATED	Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
NCT04899310	Phase 1/2	TERMINATED	A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
NCT05295433	Phase 1/2	RECRUITING	An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
NCT05778877	Phase 1/2	WITHDRAWN	A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA
NCT00078078	Not specified	RECRUITING	Clinical and Laboratory Study of Methylmalonic Acidemia
NCT01289158	Not specified	UNKNOWN	Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
NCT03484767	Not specified	COMPLETED	The MaP Study: Mapping the Patient Journey in MMA and PA
NCT03655223	Not specified	ACTIVE_NOT_RECRUITING	Early Check: Expanded Screening in Newborns
NCT04176523	Not specified	RECRUITING	Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
NCT05040178	Not specified	RECRUITING	An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
NCT05330039	Not specified	COMPLETED	Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
NCT05438485	Not specified	TERMINATED	Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
NCT05506254	Not specified	ACTIVE_NOT_RECRUITING	Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool
NCT07432880	Not specified	RECRUITING	A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
NCT01568736	Not specified	WITHDRAWN	B7 Coreceptor Molecules in Hyper IgD Syndrome Form of Mevalonate Kinase Deficiency
NCT06838143	Not specified	RECRUITING	Ilaris NIS in Korea
NCT00260299	Not specified	TERMINATED	Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
NCT05292768	Not specified	NOT_YET_RECRUITING	Are Mast Cells Involved in Autoinflammatory Diseases
NCT00887939	Not specified	COMPLETED	Pathogenesis of Physical Induced Urticarial Syndromes
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Predicted chemistry — Sugi Predict

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