ARSG

Summary

ARSG (arylsulfatase G, HGNC:24102) is a protein-coding gene on chromosome 17q24.2, encoding Arylsulfatase G (Q96EG1). Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate.

The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 22901 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Usher syndrome, type 4 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 7
• Clinical variants (ClinVar): 655 total — 26 pathogenic, 16 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 28 tissues, sQTL in 9 (q < 0.05)
• Phenotypes (HPO): 20
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.00 (unconstrained)
• MANE Select transcript: NM_001267727

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24102
Approved symbol	ARSG
Name	arylsulfatase G
Location	17q24.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1001
Ensembl gene	ENSG00000141337
Ensembl biotype	protein_coding
OMIM	610008
Entrez	22901

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

MANE Select: ENST00000621439

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

ENST00000621439, ENST00000448504, ENST00000452479, ENST00000578554, ENST00000578726, ENST00000581032, ENST00000582154, ENST00000590690, ENST00000996773, ENST00001024094, ENST00001024096, ENST00001078272, ENST00001078273, ENST00001125650, ENST00001143520

RefSeq mRNA: 13 — MANE Select: NM_001267727 NM_001267727, NM_001352899, NM_001352900, NM_001352901, NM_001352902, NM_001352903, NM_001352904, NM_001352905, NM_001352906, NM_001352907, NM_001352909, NM_001352910, NM_014960

CCDS: CCDS11676

Canonical transcript exons

ENST00000621439 — 12 exons

Exon	Start	End
ENSE00001598531	68306943	68307711
ENSE00003489898	68401360	68401450
ENSE00003537062	68356667	68356804
ENSE00003560204	68368548	68368744
ENSE00003575766	68347125	68347172
ENSE00003606570	68395073	68395193
ENSE00003614083	68351575	68351686
ENSE00003616583	68385064	68385172
ENSE00003655575	68370444	68370524
ENSE00003665430	68343604	68343791
ENSE00003717262	68420189	68420814
ENSE00003739640	68291495	68291568

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 88.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1408 / max 643.6026, expressed in 1380 samples.

Highest expression (Bgee): blood, stromal cell of endometrium, monocyte, leukocyte, granulocyte.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ARSG is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 28 tissues and its splicing (sQTL) in 9 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 37 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	1.4e-52	-0.54	17:68259066:C:T
Artery Aorta	eqtl	9.7e-25	-0.46	17:68257730:A:C
Pancreas	eqtl	1.6e-24	-0.56	17:68259280:A:G
Esophagus Muscularis	eqtl	9.4e-20	-0.42	17:68257730:A:C
Cells Cultured fibroblasts	eqtl	5.7e-18	-0.22	17:68271550:A:T
Brain Cerebellar Hemisphere	sqtl	3.7e-17	-0.95	17:68368212:T:C
Brain Nucleus accumbens basal ganglia	sqtl	9.3e-14	-0.83	17:68368212:T:C
Nerve Tibial	eqtl	2.1e-13	-0.34	17:68443355:C:T
Brain Cerebellum	sqtl	5.4e-12	-0.86	17:68368212:T:C
Esophagus Gastroesophageal Junction	eqtl	3.3e-11	-0.38	17:68259066:C:T
Colon Sigmoid	eqtl	7.8e-11	-0.36	17:68266615:A:G
Artery Coronary	eqtl	2.7e-09	-0.46	17:68271550:A:T
Adipose Subcutaneous	eqtl	8.6e-09	-0.25	17:68259066:C:T
Whole Blood	sqtl	4.4e-07	+0.83	17:68394077:T:C
Thyroid	eqtl	1.5e-04	+0.17	17:68260815:G:T
Brain Cortex	sqtl	1.5e-04	+0.65	17:68368663:T:C
Skin Not Sun Exposed Suprapubic	eqtl	2.6e-03	+0.18	17:68290996:A:C
Uterus	eqtl	2.8e-03	-0.37	17:68262813:T:G
Pituitary	eqtl	4.4e-03	-0.36	17:68442201:T:C
Whole Blood	eqtl	6.9e-03	-0.34	17:68360952:G:A

FANTOM5 promoters

showing 10 of 14 alternative TSS:

Promoter ID	TPM avg	Samples expressed
162404	3.5953	985
162405	1.6757	563
162406	1.0857	245
162403	1.0341	450
162396	0.6536	411
162402	0.2831	151
162407	0.2066	50
162413	0.1438	25
162425	0.1352	58
162414	0.1252	12

Top tissues by expression

showing 100 of 138 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	88.54	gold quality
stromal cell of endometrium	CL:0002255	87.87	gold quality
monocyte	CL:0000576	85.36	gold quality
leukocyte	CL:0000738	85.25	gold quality
granulocyte	CL:0000094	83.95	gold quality
bone marrow cell	CL:0002092	82.17	gold quality
thymus	UBERON:0002370	81.59	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.78	gold quality
bone marrow	UBERON:0002371	80.59	gold quality
adrenal tissue	UBERON:0018303	79.15	gold quality
cerebellar cortex	UBERON:0002129	78.66	gold quality
cerebellum	UBERON:0002037	78.62	gold quality
cerebellar hemisphere	UBERON:0002245	78.61	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.58	gold quality
endometrium	UBERON:0001295	78.18	gold quality
right adrenal gland	UBERON:0001233	77.78	gold quality
pituitary gland	UBERON:0000007	77.57	gold quality
adrenal gland	UBERON:0002369	77.42	gold quality
right adrenal gland cortex	UBERON:0035827	77.36	gold quality
left adrenal gland	UBERON:0001234	77.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.83	gold quality
sural nerve	UBERON:0015488	76.80	gold quality
left adrenal gland cortex	UBERON:0035825	76.68	gold quality
tonsil	UBERON:0002372	76.42	gold quality
apex of heart	UBERON:0002098	76.37	gold quality
cerebellar vermis	UBERON:0004720	76.37	gold quality
adenohypophysis	UBERON:0002196	76.36	gold quality
skeletal muscle tissue	UBERON:0001134	76.18	gold quality
gastrocnemius	UBERON:0001388	76.10	gold quality
lymph node	UBERON:0000029	75.86	gold quality
ventricular zone	UBERON:0003053	75.84	gold quality
right uterine tube	UBERON:0001302	75.71	gold quality
muscle of leg	UBERON:0001383	75.67	gold quality
muscle tissue	UBERON:0002385	75.56	gold quality
fallopian tube	UBERON:0003889	75.17	gold quality
left ovary	UBERON:0002119	75.03	gold quality
spleen	UBERON:0002106	75.00	gold quality
ovary	UBERON:0000992	74.79	gold quality
smooth muscle tissue	UBERON:0001135	74.76	gold quality
islet of Langerhans	UBERON:0000006	74.72	gold quality
thyroid gland	UBERON:0002046	74.65	gold quality
prefrontal cortex	UBERON:0000451	74.46	gold quality
skin of leg	UBERON:0001511	74.45	gold quality
calcaneal tendon	UBERON:0003701	74.39	gold quality
zone of skin	UBERON:0000014	74.22	gold quality
heart left ventricle	UBERON:0002084	74.10	gold quality
esophagus mucosa	UBERON:0002469	74.05	gold quality
right atrium auricular region	UBERON:0006631	74.00	gold quality
right ovary	UBERON:0002118	73.97	gold quality
left lobe of thyroid gland	UBERON:0001120	73.91	gold quality
heart	UBERON:0000948	73.79	gold quality
skin of abdomen	UBERON:0001416	73.78	gold quality
mucosa of stomach	UBERON:0001199	73.74	gold quality
thoracic aorta	UBERON:0001515	73.49	gold quality
ascending aorta	UBERON:0001496	73.45	gold quality
frontal cortex	UBERON:0001870	73.45	gold quality
placenta	UBERON:0001987	73.30	gold quality
descending thoracic aorta	UBERON:0002345	73.28	gold quality
thoracic mammary gland	UBERON:0005200	73.22	gold quality
superior frontal gyrus	UBERON:0002661	73.15	gold quality
saliva-secreting gland	UBERON:0001044	73.12	gold quality
minor salivary gland	UBERON:0001830	73.06	gold quality
vermiform appendix	UBERON:0001154	73.02	gold quality
right lobe of thyroid gland	UBERON:0001119	73.01	gold quality
multicellular organism	UBERON:0000468	73.00	gold quality
right coronary artery	UBERON:0001625	72.95	gold quality
subcutaneous adipose tissue	UBERON:0002190	72.74	gold quality
brain	UBERON:0000955	72.64	gold quality
left coronary artery	UBERON:0001626	72.63	gold quality
putamen	UBERON:0001874	72.46	gold quality
tibial nerve	UBERON:0001323	72.43	gold quality
tibial artery	UBERON:0007610	72.36	gold quality
popliteal artery	UBERON:0002250	72.35	gold quality
body of uterus	UBERON:0009853	72.22	gold quality
cortex of kidney	UBERON:0001225	72.14	gold quality
nucleus accumbens	UBERON:0001882	72.10	gold quality
right frontal lobe	UBERON:0002810	72.00	gold quality
myometrium	UBERON:0001296	71.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.83	gold quality
esophagus	UBERON:0001043	71.78	gold quality
uterine cervix	UBERON:0000002	71.72	gold quality
caudate nucleus	UBERON:0001873	71.48	gold quality
colonic epithelium	UBERON:0000397	71.46	silver quality
cerebral cortex	UBERON:0000956	71.39	gold quality
adipose tissue	UBERON:0001013	71.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	71.19	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.74	gold quality
upper lobe of left lung	UBERON:0008952	70.68	gold quality
adult mammalian kidney	UBERON:0000082	70.63	gold quality
gall bladder	UBERON:0002110	70.59	gold quality
body of stomach	UBERON:0001161	70.55	gold quality
primary visual cortex	UBERON:0002436	70.49	gold quality
kidney	UBERON:0002113	70.40	gold quality
ectocervix	UBERON:0012249	70.40	gold quality
substantia nigra	UBERON:0002038	70.13	gold quality
endocervix	UBERON:0000458	70.01	gold quality
stomach	UBERON:0000945	70.00	gold quality
anterior cingulate cortex	UBERON:0009835	69.98	gold quality
right lung	UBERON:0002167	69.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.18

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Epididymis	tissue	28.6	low
Caudate putamen	tissue	27.5
Choroid plexus	tissue	24.0
Locus coeruleus	tissue	11.3
Frontal cortex	tissue	11.0
Postcentral gyrus	tissue	9.5
Nucleus accumbens	tissue	8.8
Corpus callosum	tissue	7.3
Retina	tissue	7.2
Thyroid gland	tissue	7.0	low
Fallopian tube	tissue	6.2	not detected
Hippocampus	tissue	6.1	low
Medulla oblongata	tissue	6.0
Basal ganglia	tissue	5.9	low
Amygdala	tissue	5.8
Spinal cord	tissue	5.8
Ventral forebrain	tissue	5.7
Hippocampal formation	tissue	5.5
Hypothalamus	tissue	5.4
Substantia nigra	tissue	5.4
Septum	tissue	5.4
Ovary	tissue	5.3	not detected
Superior colliculi	tissue	5.3
Seminal vesicle	tissue	5.2	low
Periaqueductal gray	tissue	5.2
Pituitary gland	tissue	5.1
Breast	tissue	5.1	not detected
Putamen	tissue	5.1
Cerebral cortex	tissue	4.8	low
Midbrain	tissue	4.8
Insular cortex	tissue	4.8
Pons	tissue	4.7
Thalamus	tissue	4.7
Retrosplenial cortex	tissue	4.7
Heart muscle	tissue	4.6	low
Spleen	tissue	4.6	not detected
Olfactory bulb	tissue	4.6
Entorhinal cortex	tissue	4.5
Prefrontal cortex	tissue	4.4
Retrosplenial and cingulate cortex	tissue	4.3
Skin 1	tissue	4.2	not detected
Motor cortex	tissue	4.2
Temporal cortex	tissue	4.2
Esophagus	tissue	4.1	not detected
Occipital cortex	tissue	4.1
Somatosensory cortex	tissue	4.0
Lymph node	tissue	3.7	not detected
Endometrium 1	tissue	3.6	not detected
Tonsil	tissue	3.4	not detected
Cervix	tissue	3.3	not detected
Bone marrow	tissue	3.2	not detected
Adrenal gland	tissue	3.0	low
Salivary gland	tissue	2.9	low
Tongue	tissue	2.8
Appendix	tissue	2.7	not detected
Skeletal muscle	tissue	2.4	not detected
Placenta	tissue	2.4	not detected
Cerebellum	tissue	2.4	low
Thymus	tissue	2.3
Stomach 1	tissue	2.2	low

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Vermis (19.1), Flocculonodular lobe (18.8), Cerebellar cortex (18.4), Inferior colliculus (13.1), Pontine raphe nucleus (13.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

18 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-657	99.48	66.02	848
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-532-5P	98.43	67.53	760
HSA-MIR-4288	97.11	67.23	1636

Functional genomics

gnomAD constraint: pLI 2.57e-09, LOEUF 0.996, missense Z 1.23 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000621439 — one region, missense o/e 0.93.

Literature-anchored findings (GeneRIF, showing 11)

• molecular cloning and biochemical characterization of Arylsulfatase G [ARSG] (PMID:12461688)
• Arylsulfatase G is a novel lysosomal sulfatase and its expression is tissue-specific with highest expression in liver, kidney, and pancreas (PMID:18283100)
• Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1 were present, which have been shown to be associated with high blood pressure and hypertension in two Korean cohorts. (PMID:19960030)
• Genome-wide significance with musician’s dystonia was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 x 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). (PMID:24375517)
• ARSG is differentially expressed, processed, and transported in tissues involving a membrane-associated pre-lysosomal precursor. (PMID:25135642)
• This study provide further support for a role of ARSG variants in task-specific dystonia, especially writer’s cramp. (PMID:25825126)
• We identified a homozygous founder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). All patients shared a distinctive retinal phenotype with ring-shaped atrophy along the arcades engirdling the fovea, resulting in ring scotoma. (PMID:29300381)
• No association of rs11655081 ARSG with blepharospasm was found in a Greek cohort. (PMID:30656493)
• New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. (PMID:33300174)
• Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome. (PMID:33629623)
• Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. (PMID:34223797)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	arsg	ENSDARG00000101715
		ENSDARG00000103261
mus_musculus	Arsg	ENSMUSG00000020604
rattus_norvegicus	Arsg	ENSRNOG00000003931
drosophila_melanogaster	CG18278	FBGN0033836
drosophila_melanogaster	CG7408	FBGN0036765
drosophila_melanogaster	CG7402	FBGN0036768
drosophila_melanogaster	CG32191	FBGN0052191
drosophila_melanogaster	CG30059	FBGN0260475

Paralogs (16): ARSD (ENSG00000006756), IDS (ENSG00000010404), ARSF (ENSG00000062096), ARSA (ENSG00000100299), STS (ENSG00000101846), ARSB (ENSG00000113273), GNS (ENSG00000135677), SULF1 (ENSG00000137573), GALNS (ENSG00000141012), ARSL (ENSG00000157399), ARSK (ENSG00000164291), ARSJ (ENSG00000180801), SGSH (ENSG00000181523), ARSI (ENSG00000183876), SULF2 (ENSG00000196562), ARSH (ENSG00000205667)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1921258) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 24 distinct phenotype terms.

Mouse phenotype (MP)	Records
astrocytosis	2
microgliosis	2
abnormal microglial cell morphology	1
abnormal hepatocyte morphology	1
abnormal Purkinje cell morphology	1
decreased Purkinje cell number	1
decreased exploration in new environment	1
abnormal spatial learning	1
abnormal learning/memory/conditioning	1
abnormal kidney morphology	1
abnormal macrophage morphology	1
abnormal neuron morphology	1
impaired passive avoidance behavior	1
abnormal kidney epithelium morphology	1
lysosomal protein accumulation	1
abnormal perivascular macrophage morphology	1
retina photoreceptor degeneration	1
thin retina outer nuclear layer	1
short photoreceptor outer segment	1
abnormal hippocampus neuron morphology	1
abnormal thalamus neuron morphology	1
abnormal glycosaminoglycan level	1
decreased total retina thickness	1
abnormal liver sinusoidal endothelial cell morphology	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
Canis lupus familiaris	Q32KH7	95.6%	Diamond
Sus scrofa	Q8WNQ7	89.8%	Diamond
Bos taurus	Q08DD1	87.8%	Diamond
Hemicentrotus pulcherrimus	P14000	69.0%	Diamond
Strongylocentrotus purpuratus	P50473	68.6%	Diamond
Formosa agariphila KMM 3901	T2KM26	39.4%	Diamond
Bacteroides thetaiotaomicron VPI-5482	Q89YS5	39.3%	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
FAM20A	protein-coding	54757
WIPI1	protein-coding	55062
PRKAR1A	protein-coding	5573
MIR635	ncRNA	693220
AMZ2	protein-coding	51321
SLC16A6	protein-coding	9120
LINC01482	ncRNA	101928104

Protein

Protein identifiers

Arylsulfatase G — Q96EG1 (reviewed: Q96EG1)

Alternative names: N-sulfoglucosamine-3-sulfatase

All UniProt accessions (2): Q96EG1, J9JIG6

UniProt curated annotations — full annotation on UniProt →

Function. Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate. Catalyzes the hydrolysis of the 3-sulfate groups of the N-sulfo-D-glucosamine 3-O-sulfate units of heparin.

Subcellular location. Lysosome.

Tissue specificity. Widely expressed, with very low expression in brain, lung, heart and skeletal muscle.

Post-translational modifications. N-glycosylated. N-glycosylated with both high mannose and complex type sugars. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. The 63-kDa precursor undergoes proteolytic processing in two steps, yielding two fragments in the first step (apparent molecular masses of 44 and 18 kDa). In the second step, the 44-kDa fragment is processed further to the 34- and 10-kDa chains. The 10-kDa chain is a cleavage product of the 44-kDa fragment but linked to the 18-kDa chain through a disulfide bridge.

Disease relevance. Usher syndrome 4 (USH4) [MIM:618144] A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.

Cofactor. Binds 1 Ca(2+) ion per subunit.

Similarity. Belongs to the sulfatase family.

RefSeq proteins (13): NP_001254656, NP_001339828, NP_001339829, NP_001339830, NP_001339831, NP_001339832, NP_001339833, NP_001339834, NP_001339835, NP_001339836, NP_001339838, NP_001339839, NP_055775 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000917	Sulfatase_dom	Domain
IPR017850	Alkaline_phosphatase_core_sf	Homologous_superfamily
IPR024607	Sulfatase_CS	Conserved_site
IPR050738	Sulfatase	Family

Pfam: PF00884, PF14707

Catalyzed reactions (Rhea)

• an aryl sulfate + H2O = a phenol + sulfate + H(+) (RHEA:17261)

UniProt features (31 total): sequence variant 10, binding site 8, glycosylation site 4, active site 2, mutagenesis site 2, sequence conflict 2, signal peptide 1, chain 1, modified residue 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96EG1-F1	91.90	0.86

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Eye disease

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

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 (2)

Position	Role
84	nucleophile
139

Ligand- & substrate-binding residues (8)

Position	Role
302	Ca(2+)
303	Ca(2+)
44	Ca(2+)
45	Ca(2+)
84	Ca(2+)
137	substrate
162	substrate
251	substrate

Post-translational modifications (1)

Type	Positions
3-oxoalanine (cys)	84

Glycosylation sites (4)

Type	Positions
N-linked (glcnac…) asparagine	117, 215, 356, 497

Mutagenesis-validated functional residues (2)

Position	Phenotype
84	no sulfatase activity.
501	decrease of sulfatase activity.

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 9; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

9 pathways:

ID	Pathway	Evidence
R-HSA-9840310	Glycosphingolipid catabolism	curated
R-HSA-1663150	The activation of arylsulfatases	curated
R-HSA-163841	Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	—
R-HSA-1660662	Glycosphingolipid metabolism	—
R-HSA-1430728	Metabolism	—
R-HSA-556833	Metabolism of lipids	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—
R-HSA-428157	Sphingolipid metabolism	—

MSigDB gene sets: 133 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_VACUOLE_ORGANIZATION, KEGG_LYSOSOME, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, AAAYRNCTG_UNKNOWN, MODULE_99, GOBP_NEURON_APOPTOTIC_PROCESS, RYTTCCTG_ETS2_B, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, REACTOME_SPHINGOLIPID_METABOLISM, GOBP_LYTIC_VACUOLE_ORGANIZATION, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_GLIAL_CELL_DIFFERENTIATION, FOXJ2_02

GO Biological Process (1): sulfur compound metabolic process (GO:0006790)

GO Molecular Function (4): arylsulfatase activity (GO:0004065), N-sulfoglucosamine-3-sulfatase activity (GO:0033889), metal ion binding (GO:0046872), hydrolase activity (GO:0016787)

GO Cellular Component (3): lysosome (GO:0005764), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788)

Reactome top-level categories

7 top-level categories:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1
Glycosphingolipid metabolism	1
Post-translational protein modification	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1
Metabolism of proteins	1

GO top-level categories

10 GO namespaces:

Category	Terms
sulfuric ester hydrolase activity	2
metabolic process	1
cation binding	1
catalytic activity	1
lytic vacuole	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 5 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

5 experimentally-supported GO terms:

GO term	NS	Evidence
sulfur compound metabolic process	BP	direct assay
endoplasmic reticulum	CC	direct assay
lysosome	CC	direct assay
N-sulfoglucosamine-3-sulfatase activity	MF	direct assay
arylsulfatase activity	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 750 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARSG	CLN6	Q9NWW5	625
ARSG	CEP78	Q5JTW2	619
ARSG	CLN8	Q9UBY8	591
ARSG	CLN5	O75503	579
ARSG	HGSNAT	Q68CP4	576
ARSG	ATP13A2	Q9NQ11	568
ARSG	USH2A	O75445	560
ARSG	MFSD8	Q8NHS3	558
ARSG	CEP250	Q9BV73	552
ARSG	PPT1	P50897	546
ARSG	IDUA	P35475	535
ARSG	ARSK	Q6UWY0	532
ARSG	RIMBP2	O15034	515
ARSG	USH1G	Q495M9	484
ARSG	SPATA6L	Q8N4H0	478

IntAct

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

1 partners by confidence:

Partner	Interaction type	MIscore	Records
YDJC	association	0.350	2

BioGRID (56 interactions; top human partners by supporting records): PTPRK (Affinity Capture-MS; 3 records), CANX (Affinity Capture-MS; 2 records), CGRRF1 (Affinity Capture-MS; 2 records), CTAGE5 (Affinity Capture-MS; 2 records), DPH1 (Affinity Capture-MS; 2 records), FBXO21 (Affinity Capture-MS; 2 records), GSK3A (Affinity Capture-MS; 2 records), IDE (Affinity Capture-MS; 2 records), LYZL2 (Affinity Capture-MS; 2 records), MESDC2 (Affinity Capture-MS; 2 records), QRSL1 (Affinity Capture-MS; 2 records), SUMF1 (Affinity Capture-MS; 2 records), TMEM214 (Affinity Capture-MS; 2 records), TOR3A (Affinity Capture-MS; 2 records), TUBA4A (Affinity Capture-MS; 2 records)

Disease & clinical

Genetic variants

Variant evidence for ARSG: 655 ClinVar records (42 pathogenic / likely pathogenic); 7 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	26
Likely pathogenic	16
Uncertain significance	336
Likely benign	182
Benign	33

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 42 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
936776	NM_001267727.2(ARSG):c.982+2T>G	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
962127	NM_001267727.2(ARSG):c.1091+1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
852327	NM_001267727.2(ARSG):c.100C>T (p.Gln34Ter)	Pathogenic	criteria provided, single submitter	1
1051129	NM_001267727.2(ARSG):c.454+1G>T	Pathogenic	criteria provided, single submitter	1
1430743	NM_001267727.2(ARSG):c.914dup (p.Trp306fs)	Pathogenic	criteria provided, single submitter	1
1443992	NM_001267727.2(ARSG):c.1267del (p.Val423fs)	Pathogenic	criteria provided, single submitter	1
1461966	NM_001267727.2(ARSG):c.922C>T (p.Gln308Ter)	Pathogenic	criteria provided, single submitter	1
1960975	NM_001267727.2(ARSG):c.983-2A>G	Pathogenic	criteria provided, single submitter	1
1996932	NM_001267727.2(ARSG):c.1145_1146del (p.Gln382fs)	Pathogenic	criteria provided, single submitter	1
2010220	NM_001267727.2(ARSG):c.1276G>T (p.Glu426Ter)	Pathogenic	criteria provided, single submitter	1
2096527	NM_001267727.2(ARSG):c.1303+1G>A	Pathogenic	criteria provided, single submitter	1
2112819	NM_001267727.2(ARSG):c.454+1G>A	Pathogenic	criteria provided, single submitter	1
2723864	NM_001267727.2(ARSG):c.390C>A (p.Tyr130Ter)	Pathogenic	criteria provided, single submitter	1
2833004	NM_001267727.2(ARSG):c.829dup (p.Asp277fs)	Pathogenic	criteria provided, single submitter	1
2860488	NM_001267727.2(ARSG):c.1154_1155del (p.Arg385fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

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

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 38 predictions of 1,852):

Position(s)	Effect	Δscore	Sites
17:68343602–68343603	acceptor_loss	1.0000	6
17:68343768	donor_gain	1.0000
17:68343792–68343793	donor_loss	1.0000	6
17:68356662	acceptor_gain	1.0000
17:68356665–68356666	acceptor_loss	1.0000	5
17:68306941–68306942	acceptor_loss	0.9900	5
17:68332819	acceptor_gain	0.9900
17:68344788	donor_gain	0.9900
17:68347123–68347124	acceptor_loss	0.9900	6
17:68347173–68347174	donor_loss	0.9900	6

AlphaMissense

952 missense substitutions predicted likely pathogenic (of 3,415 scored), across 253 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
M165	9	0.760	0.950
D45	8	0.978	0.996
D302	8	0.975	0.995
D44	8	0.974	0.995
H139	8	0.970	0.985
D367	8	0.948	0.979
H251	8	0.939	0.974
D164	8	0.922	0.970
F153	8	0.920	0.992
S162	8	0.913	0.992
F106	8	0.908	0.987
D50	8	0.900	0.947
D277	8	0.875	0.962
D387	8	0.861	0.919
W138	7	0.978	0.998
C167	7	0.959	0.984
C84	7	0.957	0.994
K137	7	0.953	0.997
W337	7	0.935	0.981
F456	7	0.935	0.982

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Pancreatic Adenocarcinoma (TCGA)	favorable	8.75e-07
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	1.93e-05

Disease associations

OMIM: gene MIM:610008 | disease phenotypes: MIM:618144, MIM:276900

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
Usher syndrome, type 4	Strong	Autosomal recessive	5
Usher syndrome type 3	Supportive	Autosomal recessive

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (8 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

8 panels:

Panel	Rating
Hypotonic infant	green
Leukodystrophy, childhood onset	green
Likely inborn error of metabolism	green
Lysosomal storage disorder	green
Retinal disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Monogenic hearing loss	amber
Paediatric disorders	amber

Mondo (3): Usher syndrome, type 4 (MONDO:0029141), Usher syndrome (MONDO:0019501), Usher syndrome type 3 (MONDO:0016485)

Orphanet (1): Usher syndrome (Orphanet:886)

HPO phenotypes

20 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000375	Abnormal cochlea morphology
HP:0000407	Sensorineural hearing impairment
HP:0000408	Progressive sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000546	Retinal degeneration
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000662	Nyctalopia
HP:0000716	Depression
HP:0000739	Anxiety
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001751	Abnormal vestibular function
HP:0001756	Vestibular hyporeflexia
HP:0007730	Iris hypopigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0030529	Ring scotoma
HP:0030631	Hyperautofluorescent macular lesion

GWAS associations

7 associations:

Study	Trait	p-value
GCST90002404_446	Red cell distribution width	3e-13
GCST006924_5	Loneliness (MTAG)	1e-9
GCST002319_2	Musician’s dystonia	4e-9
GCST006923_13	Loneliness	6e-9
GCST010245_93	LDL cholesterol levels	2e-8
GCST006922_1	Regular attendance at a religious group	2e-6
GCST009261_2	Pallidum volume	7e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0009592	social interaction measurement
EFO:0007865	loneliness measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0009188	Red cell distribution width

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D052245	Usher Syndromes	C09.218.458.341.186.500.500; C09.218.458.341.887.886; C10.597.751.418.341.186.500.500; C10.597.751.418.341.887.886; C10.597.751.941.162.625.500; C11.768.585.658.500.813; C11.966.075.375.500; C16.131.077.299.500; C16.320.290.684.500; C23.888.592.763.393.341.887.886

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2189124 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	4
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	3
trichostatin A	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzo(e)pyrene	decreases methylation	1
yessotoxin	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
azoxystrobin	affects expression	1
deguelin	increases expression	1
K 7174	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
thifluzamide	increases expression	1
abrine	decreases expression	1
pyrachlostrobin	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
PP242	increases expression	1
Sunitinib	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2209028	Binding	Time dependent inhibition of human aryl sulfatase G at 0.1 uM to 1000 uM by para-nitrocatechol sulfate-based colorimetric assay	Evaluation of sulfatase-directed quinone methide traps for proteomics. — *Bioorg Med Chem*

Clinical trials (associated diseases)

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

showing 60 of 73 trials:

NCT	Phase	Status	Title
NCT04224207	Phase 3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	Phase 3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	Phase 3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT07710196	Phase 3	NOT_YET_RECRUITING	A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT01530659	Phase 2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT03763227	Phase 2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	Phase 2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	Phase 2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT02065011	Phase 2	ACTIVE_NOT_RECRUITING	A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
NCT06592131	Phase 1	NOT_YET_RECRUITING	BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
NCT05902962	Phase 1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	Phase 1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	Phase 1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT02230072	Phase 1	COMPLETED	Fetoscopic Meningomyelocele Repair Study
NCT04855045	Phase 2/3	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	Phase 1/2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	Phase 1/2	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	Phase 1/2	ACTIVE_NOT_RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	Phase 1/2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	Phase 1/2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	Phase 1/2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	Early Phase 1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT07656753	Early Phase 1	RECRUITING	Safety and Efficacy Study of PUMCH-E111 Injection in Subjects With RLBP1 Related Inherited Retinal Dystrophy
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality
NCT01505062	Phase 1/2	TERMINATED	Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
NCT04355689	Phase 1/2	COMPLETED	Safety and Efficacy of NPI-001 Tablets for RP Associated With Usher Syndrome
NCT06789445	Phase 1/2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT00004345	Not specified	TERMINATED	Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
NCT00016471	Not specified	COMPLETED	A Genetic Analysis of Usher Syndrome in Ashkenazi Jews
NCT00106743	Not specified	COMPLETED	Natural History and Genetic Studies of Usher Syndrome
NCT01954953	Not specified	UNKNOWN	Clinical and Genetic Examination of Usher Syndrome Patients’ Cohort in Europe
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT03319524	Not specified	COMPLETED	Clinical and Genetic Testing of Patients With Usher Syndrome
NCT03901391	Not specified	COMPLETED	Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
NCT03990727	Not specified	UNKNOWN	Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
NCT04665726	Not specified	RECRUITING	Natural History Study of Usher Syndrome ( Light4Deaf )
NCT04906135	Not specified	COMPLETED	Auditory Neural Function in Implanted Patients With Usher Syndrome
NCT05355415	Not specified	RECRUITING	Adaptive Optics Imaging of Outer Retinal Diseases