| Type | Description |
|---|---|
| Definition | arylsulfatase G |
| Date | Results | Publications |
|---|---|---|
| 2019-04-20 12:21:00 | No association of rs11655081 ARSG with blepharospasm was found in a Greek cohort. | 30656493 |
| 2019-02-02 10:12:00 | 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. | 29300381 |
| 2016-03-19 11:57:00 | This study provide further support for a role of ARSG variants in task-specific dystonia, especially writer's cramp. | 25825126 |
| 2015-02-28 12:57:00 | 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). | 24375517 |
| 2014-12-20 11:02:00 | ARSG is differentially expressed, processed, and transported in tissues involving a membrane-associated pre-lysosomal precursor. | 25135642 |
| Type | IDs |
|---|---|
| Synonymous | USH4 |
| Gene |
UniProtKB-ID:
ARSG_HUMAN,
A0A024R8K1_HUMAN
UniprotKB:
Q96EG1,
A0A024R8K1
UniParc:
UPI000003FD81
EMBL:
AB023218,
BC012375,
AY358380,
CH471099
Ensembl:
ENSG00000141337
KO:
hsa:22901
|
| Nucleutide sequences |
EMBL-CDS:
AAH12375.1,
AAQ88746.1,
BAA76845.2,
EAW89056.1,
EAW89055.1
Gene_ORFName:
UNQ839/PRO1777,
hCG_28461
Ensembl_TRS:
ENST00000448504,
ENST00000621439
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000480910,
ENSP00000407193
RefSeq:
XP_016879857.1,
NP_001254656.1,
NP_055775.2,
XP_016879849.1,
NP_001339831.1,
NP_001339833.1,
NP_001339828.1,
NP_001339832.1,
XP_024306426.1,
NP_001339834.1,
XP_011522848.1,
XP_016879854.1,
NP_001339830.1,
NP_001339838.1,
NP_001339829.1,
XP_011522838.1,
NP_001339835.1,
XP_011522839.1,
NP_001339839.1,
NP_001339836.1
|
| Others |
UniRef100:
UniRef100_Q96EG1
UniRef90:
UniRef90_Q96EG1
UniRef50:
UniRef50_Q96EG1
UniGene:
Hs.437249
CCDS:
CCDS11676.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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