ZDHHC24

Summary

ZDHHC24 (zDHHC palmitoyltransferase 24, HGNC:27387) is a protein-coding gene on chromosome 11q13.2, encoding Probable palmitoyltransferase ZDHHC24 (Q6UX98). Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates.

Predicted to enable protein-cysteine S-palmitoyltransferase activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum.

Source: NCBI Gene 254359 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 135 total — 7 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_207340

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27387
Approved symbol	ZDHHC24
Name	zDHHC palmitoyltransferase 24
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174165
Ensembl biotype	protein_coding
Entrez	254359

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000310442, ENST00000525925, ENST00000526986, ENST00000534073, ENST00000851487

RefSeq mRNA: 2 — MANE Select: NM_207340 NM_001348571, NM_207340

CCDS: CCDS8143, CCDS86218

Canonical transcript exons

ENST00000310442 — 3 exons

Exon	Start	End
ENSE00002169583	66545723	66546048
ENSE00003300372	66535626	66539824
ENSE00003606410	66543704	66543981

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 89.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.2345 / max 142.0689, expressed in 1820 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120811	28.9877	1820
120810	1.1887	862
120813	0.8618	491
120812	0.1963	79

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	89.45	silver quality
diaphragm	UBERON:0001103	89.30	gold quality
triceps brachii	UBERON:0001509	87.86	gold quality
nasal cavity epithelium	UBERON:0005384	87.58	silver quality
gluteal muscle	UBERON:0002000	87.34	gold quality
tendon of biceps brachii	UBERON:0008188	85.96	silver quality
buccal mucosa cell	CL:0002336	84.51	gold quality
granulocyte	CL:0000094	84.17	gold quality
gingival epithelium	UBERON:0001949	83.69	silver quality
vena cava	UBERON:0004087	83.55	gold quality
type B pancreatic cell	CL:0000169	83.46	gold quality
olfactory bulb	UBERON:0002264	83.37	gold quality
left ventricle myocardium	UBERON:0006566	83.06	gold quality
decidua	UBERON:0002450	82.75	gold quality
myocardium	UBERON:0002349	82.74	gold quality
cardiac muscle of right atrium	UBERON:0003379	81.77	gold quality
right adrenal gland	UBERON:0001233	81.63	gold quality
stromal cell of endometrium	CL:0002255	81.52	gold quality
right adrenal gland cortex	UBERON:0035827	81.40	gold quality
left adrenal gland	UBERON:0001234	81.33	gold quality
leukocyte	CL:0000738	81.31	gold quality
gingiva	UBERON:0001828	81.27	silver quality
skeletal muscle tissue	UBERON:0001134	81.23	gold quality
monocyte	CL:0000576	81.21	gold quality
mononuclear cell	CL:0000842	81.21	gold quality
body of pancreas	UBERON:0001150	81.19	gold quality
lateral nuclear group of thalamus	UBERON:0002736	81.14	silver quality
muscle tissue	UBERON:0002385	80.94	gold quality
left adrenal gland cortex	UBERON:0035825	80.94	gold quality
adrenal cortex	UBERON:0001235	80.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting ZDHHC24, 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-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-490-3P	97.79	65.54	606
HSA-MIR-4433B-3P	97.22	63.62	663
HSA-MIR-3690	96.44	65.18	737

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zdhhc24	ENSMUSG00000006463
rattus_norvegicus	Zdhhc24	ENSRNOG00000019825

Protein

Protein identifiers

Probable palmitoyltransferase ZDHHC24 — Q6UX98 (reviewed: Q6UX98)

Alternative names: Zinc finger DHHC domain-containing protein 24

All UniProt accessions (3): Q6UX98, E9PI61, E9PLR9

UniProt curated annotations — full annotation on UniProt →

Function. Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates.

Subcellular location. Membrane.

Domain organisation. The DHHC domain is required for palmitoyltransferase activity.

Similarity. Belongs to the DHHC palmitoyltransferase family.

RefSeq proteins (2): NP_001335500, NP_997223* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001594	Palmitoyltrfase_DHHC	Domain
IPR039859	PFA4/ZDH16/20/ERF2-like	Family

Pfam: PF01529

Catalyzed reactions (Rhea), 1 shown:

• L-cysteinyl-[protein] + hexadecanoyl-CoA = S-hexadecanoyl-L-cysteinyl-[protein] + CoA (RHEA:36683)

UniProt features (14 total): topological domain 6, transmembrane region 5, chain 1, domain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UX98-F1	89.76	0.76

Functional residue map

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

Catalytic / active sites (1): 124 (s-palmitoyl cysteine intermediate)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 94 (showing top): CREL_01, GOBP_PROTEIN_TARGETING, chr11q13, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GATA1_01, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, LIAO_METASTASIS, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOBP_LOCALIZATION_WITHIN_MEMBRANE, CTAWWWATA_RSRFC4_Q2, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GOMF_S_ACYLTRANSFERASE_ACTIVITY, GOMF_PALMITOYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY

GO Biological Process (1): protein targeting to membrane (GO:0006612)

GO Molecular Function (5): protein-cysteine S-palmitoyltransferase activity (GO:0019706), protein binding (GO:0005515), palmitoyltransferase activity (GO:0016409), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
protein targeting	1
establishment of protein localization to membrane	1
palmitoyltransferase activity	1
protein-cysteine S-acyltransferase activity	1
binding	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
catalytic activity	1
transferase activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZDHHC24	PBDC1	Q9BVG4	571
ZDHHC24	ZDHHC12	Q96GR4	525
ZDHHC24	PPT1	P50897	517
ZDHHC24	LYPLA2	O95372	512
ZDHHC24	ZNF782	Q6ZMW2	491
ZDHHC24	ZDHHC13	Q8IUH4	481
ZDHHC24	ZDHHC11	Q9H8X9	460
ZDHHC24	ZDHHC1	Q8WTX9	459
ZDHHC24	ZDHHC6	Q9H6R6	456
ZDHHC24	ZNF646	O15015	453
ZDHHC24	ZDHHC23	Q8IYP9	441
ZDHHC24	ZNF248	Q8NDW4	437
ZDHHC24	EXD1	Q8NHP7	437
ZDHHC24	ABHD17A	Q96GS6	434
ZDHHC24	ZDHHC11B	P0C7U3	431

IntAct

58 interactions, top by confidence:

A	B	Type	Score
TCF4	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	REL	psi-mi:“MI:0915”(physical association)	0.560
REL	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	TCF4	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	STUM	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	AGR2	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	SPAG4	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	RNF5	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	TNFSF14	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
STUM	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
AGR2	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
TNFSF14	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
EBP	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
INCA1	ZDHHC24	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	STOML3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (15): ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), ZDHHC24 (Two-hybrid), PLEKHF2 (Two-hybrid), INCA1 (Two-hybrid), TCF4 (Two-hybrid), ZDHHC24 (Affinity Capture-RNA)

ESM2 similar proteins: A0PJX8, A1L1J9, A5D6W6, A5YM72, A7YWN2, B2MVP8, D3KCC4, L5KLU7, O70491, O88496, P38435, Q07175, Q0V8E7, Q1KZG0, Q1L911, Q1XHX8, Q2TGI5, Q32LM8, Q49LS7, Q4QR83, Q5KR61, Q5R7B4, Q5RF50, Q5TM67, Q643R3, Q6DGF5, Q6GNM0, Q6IR37, Q6MG14, Q6NVG1, Q6P5W5, Q6UX98, Q6ZPS2, Q767L9, Q7TNJ2, Q7TPN3, Q86VD9, Q8BTP0, Q8IXM6, Q8IZY2

Diamond homologs: A0A0R4IDP3, A0PK84, A2CEX1, A2VEY9, B8A4F0, C8VCL4, E1BLT8, E7FBS9, E7FH11, E9QCD3, F1QAM1, F1QHM7, F1RE57, J9VJ99, O60069, O74384, P0CS66, P0CS67, P0CS68, P0CS69, P59268, Q09701, Q0WQK2, Q10L01, Q2TGI5, Q2TGI8, Q2TGJ1, Q2TGK3, Q2THW0, Q2THW7, Q2THW8, Q2THW9, Q2THX0, Q2THX1, Q4P6L3, Q4WZL8, Q4X251, Q500Z2, Q550R7, Q552M6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	7
Uncertain significance	54
Likely benign	42
Benign	5

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1028835	NM_024649.5(BBS1):c.951+1G>T	Pathogenic
266090	NC_000011.10:g.66526690_66533668del	Pathogenic
3895880	NM_024649.5(BBS1):c.859G>T (p.Glu287Ter)	Pathogenic
551887	NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	Pathogenic
553542	NM_024649.5(BBS1):c.1340-1G>T	Pathogenic
585172	NM_024649.5(BBS1):c.1473+4A>G	Pathogenic
802689	NM_024649.5(BBS1):c.1243del (p.Val415fs)	Pathogenic
1724231	NM_024649.5(BBS1):c.966G>A (p.Trp322Ter)	Likely pathogenic
1724685	NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs)	Likely pathogenic
2753152	NM_024649.5(BBS1):c.1181-1G>C	Likely pathogenic
370225	NM_024649.5(BBS1):c.786del (p.Ala264fs)	Likely pathogenic
370653	NM_024649.5(BBS1):c.952-1G>A	Likely pathogenic
556969	NM_024649.5(BBS1):c.1695G>A (p.Lys565=)	Likely pathogenic
983999	NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)	Likely pathogenic

SpliceAI

2598 predictions. Top by Δscore:

Variant	Effect	Δscore
11:66523882:GGTGA:G	donor_loss	1.0000
11:66523883:G:GA	donor_loss	1.0000
11:66523883:G:GG	donor_gain	1.0000
11:66523883:GTGAG:G	donor_loss	1.0000
11:66523884:T:G	donor_loss	1.0000
11:66526119:ATAG:A	acceptor_gain	1.0000
11:66526120:TA:T	acceptor_loss	1.0000
11:66526121:A:AG	acceptor_gain	1.0000
11:66526121:A:AT	acceptor_loss	1.0000
11:66526121:AG:A	acceptor_gain	1.0000
11:66526122:G:GG	acceptor_gain	1.0000
11:66526122:GG:G	acceptor_gain	1.0000
11:66526189:CGAGG:C	donor_loss	1.0000
11:66526191:AGG:A	donor_loss	1.0000
11:66526191:AGGTG:A	donor_loss	1.0000
11:66526192:GGT:G	donor_loss	1.0000
11:66526193:G:A	donor_loss	1.0000
11:66526193:G:GA	donor_loss	1.0000
11:66526194:T:G	donor_loss	1.0000
11:66531024:TCAAG:T	donor_loss	1.0000
11:66531025:CAAG:C	donor_loss	1.0000
11:66531025:CAAGG:C	donor_loss	1.0000
11:66531026:AAG:A	donor_loss	1.0000
11:66531029:GTA:G	donor_loss	1.0000
11:66531029:GTACT:G	donor_loss	1.0000
11:66531030:T:A	donor_loss	1.0000
11:66531030:T:G	donor_loss	1.0000
11:66539521:T:TA	donor_gain	1.0000
11:66539699:C:CA	donor_gain	1.0000
11:66523454:A:AG	acceptor_gain	0.9900

AlphaMissense

1767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:66539565:G:C	F273L	0.996
11:66539565:G:T	F273L	0.996
11:66539567:A:G	F273L	0.996
11:66543846:G:C	F139L	0.994
11:66543846:G:T	F139L	0.994
11:66543848:A:G	F139L	0.994
11:66543858:G:C	N135K	0.994
11:66543858:G:T	N135K	0.994
11:66543975:G:C	C96W	0.993
11:66543967:C:G	C99S	0.992
11:66543968:A:T	C99S	0.992
11:66543976:C:T	C96Y	0.991
11:66545725:C:A	W93C	0.991
11:66545725:C:G	W93C	0.991
11:66539615:A:G	W257R	0.990
11:66539615:A:T	W257R	0.990
11:66543916:C:T	C116Y	0.990
11:66543915:G:C	C116W	0.989
11:66543933:G:C	C110W	0.989
11:66543936:G:C	H109Q	0.989
11:66543936:G:T	H109Q	0.989
11:66543899:G:C	H122D	0.988
11:66543901:T:A	D121V	0.988
11:66539699:C:T	E229K	0.987
11:66543916:C:G	C116S	0.987
11:66543917:A:G	C116R	0.987
11:66543917:A:T	C116S	0.987
11:66543968:A:G	C99R	0.987
11:66543976:C:A	C96F	0.987
11:66539576:C:A	G270W	0.986

dbSNP variants (sampled 300 via entrez): RS1000000655 (11:66547539 G>A), RS1000080914 (11:66536814 C>T), RS1000386143 (11:66523900 C>T), RS1000438556 (11:66523656 C>T), RS1000571106 (11:66540596 C>T), RS1000575360 (11:66547144 C>T), RS1000884600 (11:66529646 G>A), RS1001032327 (11:66535793 A>G), RS1001335171 (11:66529236 G>A), RS1001519411 (11:66547262 G>T), RS1001613808 (11:66524676 C>T), RS1001929134 (11:66541627 C>T), RS1001978147 (11:66541357 C>T), RS1001981077 (11:66524820 A>C,G), RS1002120889 (11:66536596 G>A,C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:209900

GenCC curated gene-disease

Mondo (4): Bardet-Biedl syndrome (MONDO:0015229), Bardet-Biedl syndrome 1 (MONDO:0008854), inherited retinal dystrophy (MONDO:0019118), BBS1-related ciliopathy (MONDO:1040043)

Orphanet (2): Bardet-Biedl syndrome (Orphanet:110), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000556	Retinal dystrophy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001241_12	Bipolar disorder	2.000000e-07
GCST008163_145	Height	8.000000e-06

MeSH disease descriptors (3)

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
D058499	Retinal Dystrophies	C11.768.585.658
C537909	Bardet-Biedl syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
GSK-J4	decreases expression	1
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
MT19c compound	decreases expression	1
Sunitinib	decreases expression	1
Air Pollutants, Occupational	affects expression	1
Atrazine	increases expression	1
Carbamazepine	affects expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Smoke	decreases expression	1
Cadmium Chloride	increases expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TY92	HAP1 ZDHHC24 (-) 1	Cancer cell line	Male
CVCL_TY93	HAP1 ZDHHC24 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
NCT00213811	Not specified	COMPLETED	Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02329210	Not specified	RECRUITING	Clinical Registry Investigating Bardet-Biedl Syndrome
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT04461444	Not specified	RECRUITING	COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT05183802	Not specified	APPROVED_FOR_MARKETING	An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
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
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
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