AP5B1

Summary

AP5B1 (adaptor related protein complex 5 subunit beta 1, HGNC:25104) is a protein-coding gene on chromosome 11q13.1, encoding AP-5 complex subunit beta-1 (Q2VPB7). As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.

Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex.

Source: NCBI Gene 91056 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 163 total — 2 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_138368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25104
Approved symbol	AP5B1
Name	adaptor related protein complex 5 subunit beta 1
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	PP1030, AP-5, DKFZp761E198
Ensembl gene	ENSG00000254470
Ensembl biotype	protein_coding
OMIM	614367
Entrez	91056

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000532090, ENST00000893259

RefSeq mRNA: 1 — MANE Select: NM_138368 NM_138368

CCDS: CCDS58146

Canonical transcript exons

ENST00000532090 — 2 exons

Exon	Start	End
ENSE00002157106	65773898	65780342
ENSE00002581202	65780442	65780976

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 91.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6068 / max 1532.1054, expressed in 1792 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120678	12.4267	1788
120677	0.8700	418
120676	0.3101	132

Top tissues by expression

241 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	91.38	gold quality
leukocyte	CL:0000738	91.05	gold quality
bone marrow cell	CL:0002092	87.88	gold quality
blood	UBERON:0000178	84.77	gold quality
granulocyte	CL:0000094	84.75	gold quality
pancreatic ductal cell	CL:0002079	83.79	silver quality
gastrocnemius	UBERON:0001388	79.22	gold quality
lower esophagus mucosa	UBERON:0035834	79.11	gold quality
right lung	UBERON:0002167	78.70	gold quality
mucosa of transverse colon	UBERON:0004991	78.49	gold quality
esophagus mucosa	UBERON:0002469	78.18	gold quality
upper lobe of left lung	UBERON:0008952	77.85	gold quality
buccal mucosa cell	CL:0002336	77.71	gold quality
popliteal artery	UBERON:0002250	77.68	gold quality
tibial artery	UBERON:0007610	77.67	gold quality
muscle of leg	UBERON:0001383	77.65	gold quality
left coronary artery	UBERON:0001626	77.62	gold quality
spleen	UBERON:0002106	77.46	gold quality
aorta	UBERON:0000947	77.42	gold quality
descending thoracic aorta	UBERON:0002345	77.40	gold quality
thoracic aorta	UBERON:0001515	77.38	gold quality
mucosa of stomach	UBERON:0001199	77.36	gold quality
esophagus	UBERON:0001043	77.35	gold quality
ascending aorta	UBERON:0001496	77.28	gold quality
upper lobe of lung	UBERON:0008948	77.26	gold quality
stromal cell of endometrium	CL:0002255	77.22	gold quality
cerebellar vermis	UBERON:0004720	77.19	gold quality
body of pancreas	UBERON:0001150	76.97	gold quality
skin of leg	UBERON:0001511	76.92	gold quality
lower esophagus	UBERON:0013473	76.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

100 targeting AP5B1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794

Literature-anchored findings (GeneRIF, showing 3)

• AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia. (PMID:22022230)
• We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold. (PMID:23825025)
• HIV-2 particle release was dependent on the adaptor protein complex AP-3 and the newly identified AP-5 complex, but much less so on AP-1. (PMID:27392064)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ap5b1	ENSDARG00000078805
mus_musculus	Ap5b1	ENSMUSG00000049562
rattus_norvegicus	Ap5b1	ENSRNOG00000026114

Protein

Protein identifiers

AP-5 complex subunit beta-1 — Q2VPB7 (reviewed: Q2VPB7)

Alternative names: Adaptor-related protein complex 5 beta subunit

All UniProt accessions (1): Q2VPB7

UniProt curated annotations — full annotation on UniProt →

Function. As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.

Subunit / interactions. Probably part of the adaptor protein complex 5 (AP-5), a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.

RefSeq proteins (1): NP_612377* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038741	AP5B1	Family
IPR048978	AP5B1_N	Domain
IPR048979	AP5B1_middle	Domain
IPR048980	AP5B1_barrel	Domain
IPR048981	AP5B1_C	Domain

Pfam: PF21587, PF21588, PF21589, PF21590

UniProt features (4 total): chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8YAB	ELECTRON MICROSCOPY	3.26
8YAH	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2VPB7-F1	80.29	0.16

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 98 (showing top): GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, RACCACAR_AML_Q6, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, chr11q13, MYOD_01, AML_Q6, GGARNTKYCCA_UNKNOWN, MARTIN_VIRAL_GPCR_SIGNALING_UP, TGANTCA_AP1_C, MYB_Q3, GOBP_LYTIC_VACUOLE_ORGANIZATION, E12_Q6, AML1_01

GO Biological Process (3): protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), endosomal transport (GO:0016197)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): lysosomal membrane (GO:0005765), late endosome (GO:0005770), AP-type membrane coat adaptor complex (GO:0030119), AP-5 adaptor complex (GO:0044599)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
vesicle-mediated transport	1
intracellular transport	1
binding	1
lysosome	1
lytic vacuole membrane	1
endosome	1
membrane coat	1
membrane protein complex	1
AP-type membrane coat adaptor complex	1

Protein interactions and networks

STRING

1066 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AP5B1	AP5S1	Q9NUS5	992
AP5B1	AP5Z1	O43299	980
AP5B1	SPG11	Q96JI7	966
AP5B1	ZFYVE26	Q68DK2	905
AP5B1	AP5M1	Q9H0R1	850
AP5B1	LRRC28	Q86X40	483
AP5B1	OVOL1	O14753	467
AP5B1	ABI3BP	Q7Z7G0	451
AP5B1	KBTBD2	Q8IY47	435
AP5B1	NYX	Q9GZU5	434
AP5B1	EXOSC9	Q06265	433
AP5B1	HGS	O14964	423
AP5B1	PRSS48	Q7RTY5	402
AP5B1	PKHD1	P08F94	394
AP5B1	CLN3	Q13286	388

IntAct

54 interactions, top by confidence:

A	B	Type	Score
AP5S1	AP5B1	psi-mi:“MI:0914”(association)	0.800
SPG11	AP5B1	psi-mi:“MI:0915”(physical association)	0.750
AP5B1	CAMK2B	psi-mi:“MI:0915”(physical association)	0.670
CAMK2B	AP5B1	psi-mi:“MI:0915”(physical association)	0.670
SPG11	AP5Z1	psi-mi:“MI:0914”(association)	0.620
AP5B1	Ap5z1	psi-mi:“MI:0915”(physical association)	0.570
AP5B1	Ap5m1	psi-mi:“MI:0915”(physical association)	0.570
AP5B1	NIF3L1	psi-mi:“MI:0915”(physical association)	0.560
NIF3L1	AP5B1	psi-mi:“MI:0915”(physical association)	0.560
ZFYVE26	AP5Z1	psi-mi:“MI:0914”(association)	0.540
ZFYVE26	AP5Z1	psi-mi:“MI:0915”(physical association)	0.540
CCNJL	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
GDF9	MYH11	psi-mi:“MI:0914”(association)	0.530
AP5S1	AP5Z1	psi-mi:“MI:0914”(association)	0.530
MAP1LC3A	AP5B1	psi-mi:“MI:0407”(direct interaction)	0.440
AP5M1	AP5B1	psi-mi:“MI:0407”(direct interaction)	0.410

BioGRID (50): AP5B1 (Two-hybrid), AP5B1 (Two-hybrid), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Two-hybrid), AP5B1 (Two-hybrid), KCNRG (Two-hybrid), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS), AP5B1 (Affinity Capture-MS)

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

Diamond homologs: D3ZVB0, F6S215, G3MZC5, Q2VPB7, Q3TAP4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AP5B1	“form complex”	“AP-5 Adaptor complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	142
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1449359	NC_000011.9:g.(?64522783)(66283694_?)del	Pathogenic
4291112	NM_138368.5(AP5B1):c.2191C>T (p.Arg731Ter)	Pathogenic
3777718	NM_138368.5(AP5B1):c.310del (p.Leu104fs)	Likely pathogenic
3777719	NM_138368.5(AP5B1):c.463C>T (p.Arg155Ter)	Likely pathogenic
3777720	NM_138368.5(AP5B1):c.862del (p.Gln288fs)	Likely pathogenic

SpliceAI

87 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65780436:GCCTA:G	donor_loss	1.0000
11:65780437:CCTA:C	donor_loss	1.0000
11:65780439:TACC:T	donor_loss	1.0000
11:65780459:G:C	donor_gain	0.9900
11:65780440:A:AC	donor_gain	0.9700
11:65780441:C:CC	donor_gain	0.9700
11:65780466:A:AC	donor_gain	0.9200
11:65780467:C:CC	donor_gain	0.9200
11:65780340:AACCT:A	acceptor_loss	0.8800
11:65780341:ACCTG:A	acceptor_loss	0.8800
11:65780342:CCTG:C	acceptor_loss	0.8800
11:65780343:C:CG	acceptor_loss	0.8800
11:65780344:T:C	acceptor_loss	0.8800
11:65780355:T:TC	acceptor_gain	0.8700
11:65780462:T:TA	donor_gain	0.8600
11:65780467:CTT:C	donor_gain	0.8200
11:65780469:T:TA	donor_gain	0.8000
11:65780458:AGCTT:A	donor_gain	0.7500
11:65780345:G:C	acceptor_loss	0.7300
11:65780355:T:C	acceptor_gain	0.7100
11:65780468:T:C	donor_gain	0.7100
11:65780683:CGG:C	donor_gain	0.7100
11:65780435:GGCCT:G	donor_loss	0.6800
11:65778384:CAG:C	donor_gain	0.6700
11:65780442:C:G	donor_loss	0.6700
11:65780347:A:AC	acceptor_gain	0.6500
11:65778394:T:TA	donor_gain	0.6400
11:65780440:AC:A	donor_gain	0.6400
11:65780441:CC:C	donor_gain	0.6400
11:65780343:C:CC	acceptor_gain	0.6300

AlphaMissense

5461 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65779500:C:A	K331N	0.989
11:65779500:C:G	K331N	0.989
11:65779566:C:A	K309N	0.987
11:65779566:C:G	K309N	0.987
11:65779477:A:G	F339S	0.986
11:65780442:C:A	K50N	0.985
11:65780442:C:G	K50N	0.985
11:65779491:A:C	F334L	0.982
11:65779491:A:T	F334L	0.982
11:65779493:A:G	F334L	0.982
11:65780322:G:C	S57R	0.981
11:65780322:G:T	S57R	0.981
11:65780324:T:G	S57R	0.981
11:65778403:A:G	F697S	0.976
11:65779476:G:C	F339L	0.976
11:65779476:G:T	F339L	0.976
11:65779478:A:G	F339L	0.976
11:65779368:G:C	F375L	0.974
11:65779368:G:T	F375L	0.974
11:65779370:A:G	F375L	0.974
11:65780036:A:G	C153R	0.974
11:65778105:A:C	S796R	0.972
11:65778105:A:T	S796R	0.972
11:65778107:T:G	S796R	0.972
11:65780044:G:T	A150D	0.968
11:65778402:G:C	F697L	0.967
11:65778402:G:T	F697L	0.967
11:65778404:A:G	F697L	0.967
11:65779369:A:G	F375S	0.967
11:65779570:A:G	F308S	0.965

dbSNP variants (sampled 300 via entrez): RS1000029989 (11:65775772 G>A), RS1000945797 (11:65780926 C>A,G,T), RS1001685979 (11:65781628 G>A,C), RS1002566490 (11:65778105 A>G), RS1002639466 (11:65777012 G>A), RS1002692203 (11:65782966 A>T), RS1003595022 (11:65777266 A>G), RS1003971801 (11:65777457 G>A), RS1004067823 (11:65780189 T>C), RS1005912068 (11:65775892 CTTTTT>C,CT,CTT,CTTTT,CTTTTTT), RS1005934272 (11:65776548 G>A), RS1006008324 (11:65776315 T>C), RS1006038868 (11:65780334 C>A,T), RS1006091398 (11:65780110 G>A,T), RS1006441996 (11:65781937 C>G,T)

Disease associations

OMIM: gene MIM:614367 | disease phenotypes: MIM:232600, MIM:209900, MIM:610329, MIM:303350

GenCC curated gene-disease

Mondo (4): glycogen storage disease V (MONDO:0009293), Bardet-Biedl syndrome (MONDO:0015229), Aicardi-Goutieres syndrome 3 (MONDO:0012471), hereditary spastic paraplegia (MONDO:0019064)

Orphanet (4): Bardet-Biedl syndrome (Orphanet:110), Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368), Aicardi-Goutières syndrome (Orphanet:51), Hereditary spastic paraplegia (Orphanet:685)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

32 associations (top):

Study	Trait	p-value
GCST001937_15	Breast cancer	9.000000e-12
GCST002481_8	Acne (severe)	3.000000e-11
GCST003180_5	Atopic march	4.000000e-10
GCST003372_35	Glomerular filtration rate (creatinine)	1.000000e-11
GCST003372_63	Glomerular filtration rate (creatinine)	3.000000e-12
GCST005038_72	Allergic disease (asthma, hay fever or eczema)	2.000000e-13
GCST005752_164	Systemic lupus erythematosus	7.000000e-06
GCST005985_53	Creatinine levels	2.000000e-09
GCST005987_47	Albumin-globulin ratio	1.000000e-08
GCST006192_34	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-08
GCST006192_68	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	3.000000e-09
GCST006195_31	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-09
GCST006195_61	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-09
GCST006291_81	Spherical equivalent or myopia (age of diagnosis)	1.000000e-09
GCST006697_6	Parental longevity (combined parental attained age, Martingale residuals)	4.000000e-06
GCST007400_57	Systemic lupus erythematosus	3.000000e-06
GCST007797_55	Asthma onset (childhood vs adult)	5.000000e-08
GCST007798_130	Asthma	3.000000e-14
GCST007800_77	Asthma (childhood onset)	3.000000e-23
GCST007994_17	Asthma (age of onset)	1.000000e-06
GCST007995_33	Asthma (childhood onset)	1.000000e-11
GCST008062_86	Blood urea nitrogen levels	2.000000e-11
GCST008064_36	Chronic kidney disease	2.000000e-11
GCST008479_11	Psoriasis	4.000000e-11
GCST008746_25	Estimated glomerular filtration rate in diabetes	2.000000e-08
GCST008916_61	Asthma	4.000000e-11
GCST009718_6	Eczema	9.000000e-10
GCST009720_52	Asthma	4.000000e-11
GCST010002_240	Refractive error	3.000000e-11
GCST011947_29	White matter hyperintensity volume	3.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007755	atopic march
EFO:0005128	albumin:globulin ratio measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0004847	age at onset
EFO:0007796	parental longevity
EFO:0005665	white matter hyperintensity measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D006012	Glycogen Storage Disease Type V	C16.320.565.202.449.560; C18.452.648.202.449.560
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C563683	Aicardi-Goutieres Syndrome 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
methylparaben	increases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	affects cotreatment, decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
1-Methyl-3-isobutylxanthine	decreases expression, affects cotreatment	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

83 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
NCT02432768	PHASE2	COMPLETED	The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)
NCT02919631	PHASE2	COMPLETED	Triheptanoin in Mc Ardle
NCT03112889	PHASE2	COMPLETED	Sodium Valproate for GSDV
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NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
NCT03211923	Not specified	UNKNOWN	Muscle Relaxation in Myopathies With Positive Muscle Phenomena
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NCT04044508	Not specified	COMPLETED	Modified Ketogenic Diet in Patients With McArdle Disease Part B
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NCT04929002	Not specified	ACTIVE_NOT_RECRUITING	Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases
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NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
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NCT05400278	Not specified	COMPLETED	Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
NCT06239064	Not specified	ACTIVE_NOT_RECRUITING	Early Genetic Identification of Obesity
NCT06615011	Not specified	NOT_YET_RECRUITING	Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report
NCT07602803	Not specified	COMPLETED	The Effect of GLP1 Agonists on Weight Loss in BBS Cohort in the UK
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NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT06948019	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT06478238	EARLY_PHASE1	RECRUITING	Calcium Folinate Treatment of Spastic Paraplegia 56