AHI1

Summary

AHI1 (Abelson helper integration site 1, HGNC:21575) is a protein-coding gene on chromosome 6q23.3, encoding Jouberin (Q8N157). Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium.

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 54806 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Joubert syndrome 3 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 27
• Clinical variants (ClinVar): 1,814 total — 172 pathogenic, 80 likely-pathogenic
• Phenotypes (HPO): 94
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001134831

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21575
Approved symbol	AHI1
Name	Abelson helper integration site 1
Location	6q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20069, ORF1, JBTS3
Ensembl gene	ENSG00000135541
Ensembl biotype	protein_coding
OMIM	608894
Entrez	54806

Gene structure

Transcript identifiers

Ensembl transcripts: 69 — 25 nonsense_mediated_decay, 24 protein_coding, 19 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000265602, ENST00000327035, ENST00000367799, ENST00000367800, ENST00000457866, ENST00000475846, ENST00000487135, ENST00000488690, ENST00000498558, ENST00000524469, ENST00000527681, ENST00000528103, ENST00000531527, ENST00000531788, ENST00000533029, ENST00000534469, ENST00000679434, ENST00000679450, ENST00000679476, ENST00000679490, ENST00000679502, ENST00000679589, ENST00000679622, ENST00000679668, ENST00000679672, ENST00000679711, ENST00000679742, ENST00000679890, ENST00000679925, ENST00000679943, ENST00000680033, ENST00000680071, ENST00000680119, ENST00000680157, ENST00000680184, ENST00000680278, ENST00000680328, ENST00000680337, ENST00000680561, ENST00000680656, ENST00000680826, ENST00000680840, ENST00000680965, ENST00000680968, ENST00000681022, ENST00000681057, ENST00000681095, ENST00000681196, ENST00000681301, ENST00000681331, ENST00000681332, ENST00000681340, ENST00000681365, ENST00000681477, ENST00000681488, ENST00000681522, ENST00000681556, ENST00000681596, ENST00000681670, ENST00000681718, ENST00000681754, ENST00000681756, ENST00000681828, ENST00000681841, ENST00000681860, ENST00000681945, ENST00000913495, ENST00000913496, ENST00000941465

RefSeq mRNA: 6 — MANE Select: NM_001134831 NM_001134830, NM_001134831, NM_001134832, NM_001350503, NM_001350504, NM_017651

CCDS: CCDS47483, CCDS47484, CCDS94006

Canonical transcript exons

ENST00000265602 — 29 exons

Exon	Start	End
ENSE00001124743	135457494	135457713
ENSE00001124847	135455734	135455926
ENSE00001350326	135463125	135463306
ENSE00001350331	135465814	135466373
ENSE00001350425	135497188	135497249
ENSE00001404821	135467581	135467634
ENSE00001445643	135497583	135497740
ENSE00001727613	135495814	135495898
ENSE00002143062	135447008	135447160
ENSE00002149823	135490623	135490747
ENSE00002173483	135453341	135453436
ENSE00002173559	135492228	135492291
ENSE00002175698	135323162	135323324
ENSE00002186079	135448290	135448475
ENSE00002200934	135283532	135285647
ENSE00002200973	135442582	135442714
ENSE00003473152	135428629	135428759
ENSE00003483797	135433027	135433256
ENSE00003485887	135358132	135358187
ENSE00003531002	135411348	135411544
ENSE00003533701	135318519	135318616
ENSE00003551387	135300500	135300558
ENSE00003572147	135290423	135290525
ENSE00003573812	135431208	135431314
ENSE00003597243	135429882	135430000
ENSE00003611686	135438375	135438498
ENSE00003644512	135404951	135404977
ENSE00003648169	135427167	135427307
ENSE00003660041	135394776	135394896

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 97.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.8049 / max 1248.7644, expressed in 1789 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75727	20.6597	1750
75724	3.5703	1244
75725	1.3080	595
75729	0.9287	438
75715	0.4136	144
75726	0.3818	141
75723	0.2637	93
75717	0.1440	42
75728	0.0812	34
75716	0.0472	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pituitary gland	UBERON:0000007	97.50	gold quality
calcaneal tendon	UBERON:0003701	97.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.22	gold quality
cerebellar hemisphere	UBERON:0002245	97.19	gold quality
cerebellar cortex	UBERON:0002129	97.18	gold quality
adenohypophysis	UBERON:0002196	97.15	gold quality
cerebellar vermis	UBERON:0004720	97.14	gold quality
cerebellum	UBERON:0002037	96.83	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.46	gold quality
middle temporal gyrus	UBERON:0002771	96.29	gold quality
primary visual cortex	UBERON:0002436	96.20	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.96	gold quality
sural nerve	UBERON:0015488	95.68	gold quality
occipital lobe	UBERON:0002021	95.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.91	gold quality
mucosa of stomach	UBERON:0001199	94.80	gold quality
right frontal lobe	UBERON:0002810	94.09	gold quality
hypothalamus	UBERON:0001898	93.89	gold quality
tendon	UBERON:0000043	93.78	gold quality
corpus callosum	UBERON:0002336	93.57	gold quality
left testis	UBERON:0004533	93.53	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.53	gold quality
testis	UBERON:0000473	93.51	gold quality
right testis	UBERON:0004534	93.51	gold quality
superior vestibular nucleus	UBERON:0007227	93.32	gold quality
adrenal tissue	UBERON:0018303	92.97	gold quality
parietal lobe	UBERON:0001872	92.92	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.91	gold quality
postcentral gyrus	UBERON:0002581	92.78	gold quality
superior frontal gyrus	UBERON:0002661	92.67	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	4497.39
E-MTAB-7316	yes	2147.22
E-MTAB-8142	yes	53.03
E-HCAD-10	yes	18.68
E-ANND-3	yes	14.84
E-HCAD-25	yes	9.62
E-GEOD-135922	yes	8.14
E-HCAD-29	no	831.23
E-MTAB-7303	no	694.77
E-GEOD-99795	no	70.76
E-GEOD-83139	no	3.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting AHI1, 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-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• in both mice and humans, Ahi-1/AHI-1 expression is highest in the most primitive hematopoietic cells with specific patterns of down-regulation in different lineages. Cells from CML patients show elevated AHI-1 transcripts in all disease phases (PMID:14751929)
• Here we identified a locus associated with Joubert syndrome, JBTS3, on chromosome 6q23.2-q23.3 and found three deleterious mutations in AHI1, the first gene to be associated with Joubert syndrome (PMID:15322546)
• AHI1 is required for both cerebellar and cortical development in humans. Mutations associated with Joubert syndrome. (PMID:15467982)
• Joubert syndrome patients with AHI1 mutations are at risk of developing both retinal dystrophy and progressive kidney disease. (PMID:16155189)
• AHI1 mutations are a frequent cause of disease in patients with specific forms of Joubert syndrome-related disorders. (PMID:16453322)
• Both, AHI1 and C6orf217 appear to be highly relevant candidate genes for schizophrenia. (PMID:16773125)
• Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations. (PMID:17409309)
• a case-control study showing that AHI1 contributes to schizophrenia (PMID:17473831)
• AHI1 mutations are an important cause of JBS in Dutch patients, and should always be looked for in patients suspected of JBS, especially when retinal dystrophy is present. (PMID:18054307)
• Putative association between AHI1 polymorphisms and type 2 diabetes or type 2 diabetes-related metabolic traits in Danish individuals have been disproved. (PMID:18227995)
• Jouberin interacts with nephrocystin-1 in HEK293 cells (PMID:18633336)
• A role is suggested for AHI1 in common disorders that affect human cognition and behavior, such as Joubert syndrome with autism spectrum disorder. (PMID:18782849)
• Results describe spatiotemporal expression patterns of AHI1 and orthologs throughout development, in human, mouse, and zebrafish, and suggest roles for AHI1 in neurodevelopmental processes behind most of the neuroanatomical defects in Joubert syndrome. (PMID:18785627)
• AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of Chronic myeloid leukemia stem/progenitor cells. (PMID:18936234)
• Data provide an important basis for further investigations on the transcriptional regulation of the AHI1 gene. (PMID:19191019)
• The SH3 domain of human AHI1 was cloned and expressed in Escherichia coli. The protein was purified by affinity and size-exclusion chromatography and was crystallized. (PMID:19342780)
• Over-expression of exogenous Ahi-1 can not only inhibit the growth and colony formation potential of Jurkat cells, but also induce phosphorylation of c-myb. (PMID:19379585)
• These findings indicate a novel role for AHI1 in skeletal muscle and identify additional genetic links with metabolic syndrome phenotypes suggesting an involvement of AHI1 in the maintenance of glucose homeostasis and type 2 diabetes mellitus progression (PMID:20045148)
• role of AHI1 as a susceptibility gene for schizophrenia; confirm it has been subjected to positive selection (PMID:20371615)
• This study provides further evidence for involvement of AHI1 in susceptibility to schizophrenia. (PMID:20452750)
• Our data demonstrate a key role for CEP290 in Leber Congenital Amaurosis (LCA) and identify 2 AHI1 mutations as neurological modifiers of the CEP290 related disease. (PMID:20683928)
• the contribution of AHI1 to the susceptibility of schizophrenia (PMID:20805890)
• Ahi1 mediates feeding behavior by interacting with 5-HT(2C)R to modulate the serotonin signaling pathway. (PMID:22123816)
• Data suggest that that the change in AHI1 expression during chronic myeloid leukemia (CML) therapy might be under the control of mechanisms independent from BCR-ABL1. (PMID:22183070)
• There was a significant linear trend for increasing AHI1 gene copy number frequencies with increasing body mass index. (PMID:22285701)
• a role for AHI1 and CEP290 in multiple organs throughout development (PMID:23028714)
• Downregulation of CDKN1C is associated with poor disease outcome in patients with cutaneous T-cell lymphoma, while upregulation of AHI1 shows a weak association with aggressive disease course. (PMID:23171462)
• The WD40-repeat domain of AHI-1 interacts with BCR-ABL, whereas the N-terminal region interacts with JAK2; loss of these interactions statistically significantly increased the IM sensitivity of CML cells. (PMID:23446755)
• Joubert syndrome-associated missense mutations alter the subcellular distribution and protein interactions of AHI1. (PMID:23532844)
• Homozygosity mapping and WES in the only other reported JBTS family with a homozygous C-terminal truncation (p.Trp1088Leufs*16) confirmed AHI1 as disease gene. (PMID:25616960)
• Two SNPs of AHI1 (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs. (PMID:25622261)
• A homozygous mutation located in exon 7 was present in the three Joubert syndrome-affected Moroccan siblings. (PMID:26541515)
• Results identified 74 somatic insertions in squamous cell carcinoma of the esophagus (SCC); 12 of them appeared to be somatic, not genetically inherited, and sub-clonal in the adjacent normal esophagus, while clonal in the tumor. These results indicate that L1 retrotransposition is active in SCC of the esophagus and that insertion events are present in histologically NE that expands clonally in the subsequent tumors. (PMID:27319353)
• We observed that a cis-eQTL of AHI1, rs11154801, showed significant association with AHI1 expression. Genetic evidence exhibited that rs11154801 was significantly associated with schizophrenia risk in both the discovery and the replication sample. These results suggested that AHI1 is likely a risk gene for schizophrenia, at least in European populations. (PMID:27585752)
• Aicardi-Goutieres syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. (PMID:28334850)
• Jbn expression correlates with the proliferation, invasive potential and invasion strategy of the tested tumor cells, and that its downregulation reduces their capability of migrating and invading the extracellular matrix (PMID:28361800)
• a new AHI-1-BCR-ABL-DNM2 protein complex was uncovered, which regulates leukemic properties of these cells through a unique mechanism of cellular endocytosis and ROS-mediated autophagy. Thus, targeting this complex may facilitate eradication of LSCs for curative therapies (PMID:28366933)
• We examined a Chinese strabismus pedigree with the parents unaffected and 2 offspring affected. Whole-exome sequencing and bioinformatics filtering identified 2 variants including Abelson helper integration site 1 (AHI1) gene and nebulin (NEB) gene. The variant in the AHI1 gene, c.A3257G (p.E1086G), and the altered amino acid had a damaging effect on the encoded protein predicted by Polyphen2. (PMID:28391287)
• introduction of equivalent stop codons in the full-length human L1 sequence leads to the expression of truncated ORF1 proteins. (PMID:28431148)
• study determined that variants in the AHI1 gene can cause non-syndromic retinitis pigmentosa (RP) next to Joubert syndrome;, patients with RP and with pathogenic AHI1 variants have a late onset of disease and mild progression (PMID:28442542)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ahi1	ENSDARG00000044056
mus_musculus	Ahi1	ENSMUSG00000019986
rattus_norvegicus	Ahi1	ENSRNOG00000013969

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

Jouberin — Q8N157 (reviewed: Q8N157)

Alternative names: Abelson helper integration site 1 protein homolog

All UniProt accessions (26): A0A7P0T7Z8, A0A7P0T880, A0A7P0T8H6, A0A7P0T8M1, A0A7P0T959, A0A7P0T9D2, A0A7P0T9G0, A0A7P0T9I7, A0A7P0T9M6, A0A7P0T9Q2, A0A7P0T9X6, A0A7P0TA48, A0A7P0TAL4, A0A7P0TB12, A0A7P0TB99, A0A7P0TBA0, A0A7P0TBL6, A0A7P0Z493, A0A7P0Z4K9, Q8N157, E9PI51, E9PML3, H0Y343, H0YDL1, H0YEF1, Q9NQN3

UniProt curated annotations — full annotation on UniProt →

Function. Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development.

Subunit / interactions. Self-associates. Part of the tectonic-like complex (also named B9 complex). Interacts with MKS1. Interacts with NPHP1; probably as heterodimers and/or AHI1(2):NPHP1(2) heterotetramers. Interacts (via SH3 domain) with the dynamin GTPase DNM2. Interacts with HAP1; probably as AHI1(2):HAP1(2) heterotetramers. Interacts with RAB8A. Interacts with CEND1. Interacts with CTNNB1/beta-catenin. Interacts with SPATA7.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body. Cell junction. Adherens junction. Microtubule organizing center. Centrosome. Centriole.

Tissue specificity. Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (renal collecting duct cells) (at protein level).

Disease relevance. Joubert syndrome 3 (JBTS3) [MIM:608629] A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. The disease is caused by variants affecting the gene represented in this entry.

Induction. Down-regulated during early differentiation of normal hematopoietic cells. Up-regulated in leukemic cells at all stages of differentiation from patients with chronic myeloid leukemia.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N157-1	1	yes
Q8N157-2	2
Q8N157-3	3

RefSeq proteins (6): NP_001128302, NP_001128303, NP_001128304, NP_001337432, NP_001337433, NP_060121 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR035832	AHI1_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR052803	Cilium-Associated_Jouberin	Family

Pfam: PF00018, PF00400

UniProt features (57 total): sequence variant 17, compositionally biased region 9, repeat 7, region of interest 5, strand 5, splice variant 4, modified residue 3, sequence conflict 2, helix 2, chain 1, coiled-coil region 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4ESR	X-RAY DIFFRACTION	1.53

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N157-F1	62.03	0.18

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 (3): 45, 1002, 1123

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-5617833	Cilium Assembly

MSigDB gene sets: 447 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_BCELL_DN, ATF_B, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_BEHAVIOR, FISCHER_G1_S_CELL_CYCLE, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOZGIT_ESR1_TARGETS_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, GOBP_NEUROGENESIS, CREBP1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, CHANDRAN_METASTASIS_DN

GO Biological Process (22): positive regulation of receptor internalization (GO:0002092), cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169), intracellular protein localization (GO:0008104), vesicle-mediated transport (GO:0016192), photoreceptor cell outer segment organization (GO:0035845), negative regulation of apoptotic process (GO:0043066), motile cilium assembly (GO:0044458), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of behavior (GO:0050795), cilium assembly (GO:0060271), morphogenesis of a polarized epithelium (GO:0001738), heart looping (GO:0001947), central nervous system development (GO:0007417), retina layer formation (GO:0010842), cell projection organization (GO:0030030), cell differentiation (GO:0030154), positive regulation of polarized epithelial cell differentiation (GO:0030862), hindbrain development (GO:0030902), cloaca development (GO:0035844), pronephric nephron tubule morphogenesis (GO:0039008), specification of axis polarity (GO:0065001), otic vesicle development (GO:0071599)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (13): centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cell-cell junction (GO:0005911), adherens junction (GO:0005912), cilium (GO:0005929), MKS complex (GO:0036038), ciliary basal body (GO:0036064), non-motile cilium (GO:0097730), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule organizing center	3
cellular anatomical structure	3
cellular component organization	2
anatomical structure development	2
intracellular membraneless organelle	2
cilium	2
regulation of receptor internalization	1
receptor internalization	1
positive regulation of receptor-mediated endocytosis	1
enzyme-linked receptor protein signaling pathway	1
macromolecule localization	1
transport	1
cellular process	1
photoreceptor cell development	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
cilium assembly	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
behavior	1
regulation of multicellular organismal process	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
morphogenesis of an epithelium	1
embryonic heart tube morphogenesis	1
determination of heart left/right asymmetry	1
nervous system development	1
system development	1
neural retina development	1
anatomical structure formation involved in morphogenesis	1
retina morphogenesis in camera-type eye	1
cellular developmental process	1

Protein interactions and networks

STRING

1560 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AHI1	NPHP1	O15259	991
AHI1	CC2D2A	Q9P2K1	978
AHI1	TMEM67	Q5HYA8	967
AHI1	CEP290	O15078	957
AHI1	RPGRIP1L	Q68CZ1	939
AHI1	RAB8A	P24407	934
AHI1	TMEM216	Q9P0N5	930
AHI1	ARL13B	Q3SXY8	910
AHI1	TCTN1	Q2MV58	896
AHI1	HAP1	P54257	892
AHI1	B9D1	Q9UPM9	871
AHI1	TMEM231	Q9H6L2	863
AHI1	NPHP4	O75161	858
AHI1	B9D2	Q9BPU9	842
AHI1	ABL1	P00519	829

IntAct

34 interactions, top by confidence:

A	B	Type	Score
HAP1	AHI1	psi-mi:“MI:0915”(physical association)	0.580
AHI1	HAP1	psi-mi:“MI:0915”(physical association)	0.580
ADAM12	AHI1	psi-mi:“MI:0407”(direct interaction)	0.560
AHI1	NPHP1	psi-mi:“MI:0915”(physical association)	0.520
NPHP1	AHI1	psi-mi:“MI:0915”(physical association)	0.520
AHI1	AHI1	psi-mi:“MI:0915”(physical association)	0.520
DNM2	AHI1	psi-mi:“MI:0915”(physical association)	0.500
AHI1	OFD1	psi-mi:“MI:0914”(association)	0.420
CC2D2A	OFD1	psi-mi:“MI:2364”(proximity)	0.420
AHI1	OFD1	psi-mi:“MI:2364”(proximity)	0.420
Dnm2	AHI1	psi-mi:“MI:0915”(physical association)	0.400
SPATA7	AHI1	psi-mi:“MI:0915”(physical association)	0.370
NINL	DCTN2	psi-mi:“MI:0914”(association)	0.350
PTPRQ	NHERF1	psi-mi:“MI:0914”(association)	0.350
AHI1	LAD1	psi-mi:“MI:0914”(association)	0.350
DOCK5	DPYSL4	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
AHI1	COL18A1	psi-mi:“MI:0914”(association)	0.350
AHI1	DVL1	psi-mi:“MI:2364”(proximity)	0.270
SSX2IP	CNOT1	psi-mi:“MI:2364”(proximity)	0.270
SMYD2	AHI1	psi-mi:“MI:0915”(physical association)	0.000
PAFAH1B1	AHI1	psi-mi:“MI:0915”(physical association)	0.000
DCTN2	AHI1	psi-mi:“MI:0915”(physical association)	0.000
DCTN1	AHI1	psi-mi:“MI:0915”(physical association)	0.000
NHERF2	AHI1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (87): OFD1 (Affinity Capture-Western), PCM1 (Affinity Capture-Western), DSP (Proximity Label-MS), DVL1 (Proximity Label-MS), ECD (Proximity Label-MS), HAUS8 (Proximity Label-MS), IQCB1 (Proximity Label-MS), MAPK9 (Proximity Label-MS), MB21D2 (Proximity Label-MS), NMT1 (Proximity Label-MS), PPP2CA (Proximity Label-MS), PPP2R1A (Proximity Label-MS), PPP2R2A (Proximity Label-MS), SIRT2 (Proximity Label-MS), SSX2IP (Proximity Label-MS)

ESM2 similar proteins: A0A1L8GXY4, A4D1P6, A8XSV3, B0JZ65, B0R160, B0WYR6, E9Q7R9, F1REV3, F6S215, O00443, O65418, P50748, Q09178, Q12769, Q17I16, Q19317, Q2TAW0, Q3MHH2, Q402B2, Q4V9P9, Q5R6T6, Q5RAY1, Q5RB52, Q5RE88, Q5ZJY3, Q5ZL79, Q5ZLL7, Q6DTM3, Q6GM71, Q6INI5, Q6P996, Q6X9E4, Q6ZQQ6, Q7TMQ7, Q86XI2, Q8BJW5, Q8BMQ2, Q8C3Y4, Q8K3E5, Q8N157

Diamond homologs: A0A0G2JV04, A0JNB0, A1A5H8, A1CEK6, A1DFN5, A1Y2K1, A2QW93, A3LXQ8, A4RF61, A5D8S5, A6H7G2, A6QLK6, A7MBI0, D3ZG83, F1RDG9, O13154, O42287, O43125, O55043, O74749, O75791, O89100, P00523, P00525, P00526, P00528, P05480, P06241, P09324, P10936, P12931, P13115, P13116, P13406, P14084, P14085, P15054, P25020, P27446, P27447

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AHI1	up-regulates	Cilium_assembly
HAP1	“up-regulates activity”	AHI1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Loss of Nlp from mitotic centrosomes	5	49.6×	1e-06
Loss of proteins required for interphase microtubule organization from the centrosome	5	49.6×	1e-06
Anchoring of the basal body to the plasma membrane	7	49.5×	3e-09
AURKA Activation by TPX2	5	47.6×	1e-06
Recruitment of mitotic centrosome proteins and complexes	5	42.5×	1e-06
Regulation of PLK1 Activity at G2/M Transition	5	39.6×	2e-06
Recruitment of NuMA to mitotic centrosomes	5	36.4×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

1814 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	172
Likely pathogenic	80
Uncertain significance	639
Likely benign	658
Benign	60

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1011633	NC_000006.11:g.(?135769428)(135769613_?)del	Pathogenic
1029630	NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)	Pathogenic
1068435	NM_001134831.2(AHI1):c.2623+2T>A	Pathogenic
1070615	NC_000006.11:g.(?135749761)(135784450_?)del	Pathogenic
1072698	NC_000006.11:g.(?135751000)(135754414_?)del	Pathogenic
1074384	NM_001134831.2(AHI1):c.1900dup (p.Tyr634fs)	Pathogenic
1074597	NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer)	Pathogenic
1075243	NM_001134831.2(AHI1):c.1983del (p.Trp662fs)	Pathogenic
1322966	NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter)	Pathogenic
1322971	NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer)	Pathogenic
1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	Pathogenic
1418352	NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter)	Pathogenic
1430970	NM_001134831.2(AHI1):c.166_167del (p.Met56fs)	Pathogenic
1440388	NM_001134831.2(AHI1):c.1242del (p.Lys414fs)	Pathogenic
1451750	NM_001134831.2(AHI1):c.900del (p.Lys300fs)	Pathogenic
1452177	NM_001134831.2(AHI1):c.276del (p.Ser93fs)	Pathogenic
1452728	NM_001134831.2(AHI1):c.3303dup (p.Pro1102fs)	Pathogenic
1458190	NM_001134831.2(AHI1):c.2970dup (p.Arg991fs)	Pathogenic
156383	NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs)	Pathogenic
1898879	NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)	Pathogenic
1901705	NM_001134831.2(AHI1):c.917dup (p.Lys307fs)	Pathogenic
1902057	NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs)	Pathogenic
1927116	NM_001134831.2(AHI1):c.2383_2386del (p.Glu795fs)	Pathogenic
1927472	NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)	Pathogenic
1929391	NM_001134831.2(AHI1):c.2072del (p.Phe691fs)	Pathogenic
1960072	NM_001134831.2(AHI1):c.1119del (p.Glu373fs)	Pathogenic
1999517	NM_001134831.2(AHI1):c.1574_1588del (p.His525_Thr529del)	Pathogenic
2010	NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	Pathogenic
2011	NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter)	Pathogenic
2014	NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)	Pathogenic

SpliceAI

6350 predictions. Top by Δscore:

Variant	Effect	Δscore
6:135285643:CTTTA:C	acceptor_gain	1.0000
6:135285646:TA:T	acceptor_gain	1.0000
6:135285648:C:CC	acceptor_gain	1.0000
6:135300498:A:AC	donor_gain	1.0000
6:135300499:C:CT	donor_gain	1.0000
6:135300499:CT:C	donor_gain	1.0000
6:135318514:TTTA:T	donor_loss	1.0000
6:135318515:TTACC:T	donor_loss	1.0000
6:135318516:TA:T	donor_loss	1.0000
6:135318517:ACC:A	donor_loss	1.0000
6:135318518:CC:C	donor_loss	1.0000
6:135318612:CAGTG:C	acceptor_gain	1.0000
6:135318614:GTG:G	acceptor_gain	1.0000
6:135318617:C:CC	acceptor_gain	1.0000
6:135318623:T:TC	acceptor_gain	1.0000
6:135321561:AG:A	donor_gain	1.0000
6:135321561:AGC:A	donor_gain	1.0000
6:135321562:G:C	donor_gain	1.0000
6:135323160:A:AC	donor_gain	1.0000
6:135323161:C:CC	donor_gain	1.0000
6:135323161:CTTT:C	donor_gain	1.0000
6:135323197:T:TA	donor_gain	1.0000
6:135323223:C:CT	donor_gain	1.0000
6:135323321:CTAC:C	acceptor_gain	1.0000
6:135394775:CCGGT:C	donor_gain	1.0000
6:135411341:AACTT:A	donor_loss	1.0000
6:135411342:ACTT:A	donor_loss	1.0000
6:135411343:CTT:C	donor_loss	1.0000
6:135411344:TTA:T	donor_loss	1.0000
6:135411345:TACTG:T	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000003495 (6:135494080 G>T), RS1000010836 (6:135456749 T>C), RS1000019895 (6:135324056 A>G), RS1000026141 (6:135497771 A>T), RS1000029756 (6:135357511 T>C,G), RS1000041568 (6:135491844 A>C), RS1000055255 (6:135444810 T>C), RS1000060300 (6:135468925 G>A), RS1000077695 (6:135452226 T>C), RS1000080792 (6:135317387 C>T), RS1000144840 (6:135406497 C>T), RS1000149463 (6:135365369 T>C), RS1000162971 (6:135298303 T>C), RS1000164320 (6:135427223 G>A), RS1000210045 (6:135424132 A>C,G)

Disease associations

OMIM: gene MIM:608894 | disease phenotypes: MIM:608629, MIM:213300, MIM:204000, MIM:268000, MIM:256100, MIM:614879, MIM:125853

GenCC curated gene-disease

Disease	Classification	Inheritance
Joubert syndrome 3	Definitive	Autosomal recessive
retinitis pigmentosa	Supportive	Autosomal dominant
Joubert syndrome with ocular defect	Supportive	Autosomal recessive
Joubert syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Joubert syndrome 3	Definitive	AR

Mondo (14): Joubert syndrome 3 (MONDO:0012078), Joubert syndrome (MONDO:0018772), Joubert syndrome and related disorders (MONDO:0015369), Joubert syndrome 1 (MONDO:0008944), optic atrophy (MONDO:0003608), Leber congenital amaurosis (MONDO:0018998), retinitis pigmentosa (MONDO:0019200), intellectual disability (MONDO:0001071), inherited retinal dystrophy (MONDO:0019118), Joubert syndrome with ocular defect (MONDO:0016364), nephronophthisis (MONDO:0019005), retinal disorder (MONDO:0005283), peroxisome biogenesis disorder 9B (MONDO:0013945), type 2 diabetes mellitus (MONDO:0005148)

Orphanet (9): Joubert syndrome with ocular defect (Orphanet:220493), Isolated Joubert syndrome (Orphanet:475), Joubert syndrome and related disorders (Orphanet:140874), Leber congenital amaurosis (Orphanet:65), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Nephronophthisis (Orphanet:655), Adult Refsum disease (Orphanet:773), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

94 total (30 of 94 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000090	Nephronophthisis
HP:0000175	Cleft palate
HP:0000194	Open mouth
HP:0000202	Orofacial cleft
HP:0000238	Hydrocephalus
HP:0000276	Long face
HP:0000286	Epicanthus
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000463	Anteverted nares
HP:0000480	Retinal coloboma
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000512	Abnormal electroretinogram
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000556	Retinal dystrophy
HP:0000563	Keratoconus
HP:0000572	Visual loss
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000612	Iris coloboma

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST001198_2	Multiple sclerosis	1.000000e-13
GCST003155_29	Systemic lupus erythematosus	4.000000e-07
GCST003622_24	Systemic lupus erythematosus	5.000000e-06
GCST003814_32	Selective IgA deficiency	8.000000e-10
GCST004610_25	White blood cell count	3.000000e-14
GCST004613_148	Sum neutrophil eosinophil counts	1.000000e-13
GCST004614_96	Granulocyte count	3.000000e-14
GCST004620_63	Sum basophil neutrophil counts	1.000000e-14
GCST004625_90	Monocyte count	2.000000e-10
GCST004626_99	Myeloid white cell count	2.000000e-15
GCST004629_110	Neutrophil count	3.000000e-15
GCST005209_2	Hodgkin’s lymphoma	1.000000e-10
GCST005211_4	Nodular sclerosis Hodgkin lymphoma	5.000000e-11
GCST005531_119	Multiple sclerosis	2.000000e-20
GCST005752_135	Systemic lupus erythematosus	4.000000e-07
GCST010042_78	Asthma	9.000000e-12
GCST010043_147	Asthma	2.000000e-13
GCST010318_10	Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome	6.000000e-06
GCST90002380_40	Basophil percentage of white cells	1.000000e-12
GCST90002393_97	Monocyte count	9.000000e-22
GCST90002394_175	Monocyte percentage of white cells	3.000000e-09
GCST90002398_409	Neutrophil count	1.000000e-28
GCST90002400_596	Plateletcrit	7.000000e-09
GCST90002401_538	Platelet distribution width	6.000000e-10
GCST90002407_527	White blood cell count	2.000000e-23
GCST90010715_10	Arthritis (juvenile idiopathic)	9.000000e-12
GCST90014325_29	Asthma	2.000000e-08

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0010119	omega-3 polyunsaturated fatty acid measurement
EFO:0007992	basophil percentage of leukocytes
EFO:0007989	monocyte percentage of leukocytes
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D003924	Diabetes Mellitus, Type 2	C18.452.394.750.149; C19.246.300
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C536295	Joubert syndrome 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	5
Cyclosporine	increases expression	3
perfluorooctane sulfonic acid	decreases expression, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
N-methylisoindigotin	increases expression, affects localization	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
Homoharringtonine	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Copper	affects binding, increases expression	1
Cytarabine	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Diuron	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C6TC	UNIPVi001-A	Induced pluripotent stem cell	Male
CVCL_VD29	CSSi001-A	Induced pluripotent stem cell	Male
CVCL_WK21	CSSi007-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
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