ARR3 Chromosome X
Arrestin 3
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What This Gene Does
The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]
Gene Info
Gene Group
Classical arrestins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000120500
Associated Conditions (6)
Anophthalmia-microphthalmia syndrome
Inborn genetic diseases
Myopia 26
X-linked
female-limited
ARR3-related disorder
Key Variants
RS140505250
Conflicting classifications of pathogenicity
Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
Health Risk
RS142364440
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760814870
Conflicting classifications of pathogenicity
Myopia 26, X-linked, female-limited
Health Risk
RS2520927898
Likely pathogenic
ARR3-related disorder, ARR3-related disorder
Health Risk
RS1555941116
Pathogenic
Myopia 26, X-linked, female-limited
Health Risk
RS1555941129
Pathogenic
Myopia 26, X-linked, female-limited
Health Risk
RS2147641058
Pathogenic
Myopia 26, X-linked, female-limited
Health Risk
RS752013986
Pathogenic
Health Risk
RS765658563
Pathogenic
Myopia 26, X-linked, female-limited
Health Risk
RS2520934320
Pathogenic/Likely pathogenic
Myopia 26, X-linked, female-limited
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140505250 | Health Risk | Conflicting classifications of pathogenicity | Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome |
| RS142364440 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760814870 | Health Risk | Conflicting classifications of pathogenicity | Myopia 26, X-linked, female-limited |
| RS2520927898 | Health Risk | Likely pathogenic | ARR3-related disorder, ARR3-related disorder |
| RS1555941116 | Health Risk | Pathogenic | Myopia 26, X-linked, female-limited |
| RS1555941129 | Health Risk | Pathogenic | Myopia 26, X-linked, female-limited |
| RS2147641058 | Health Risk | Pathogenic | Myopia 26, X-linked, female-limited |
| RS752013986 | Health Risk | Pathogenic | — |
| RS765658563 | Health Risk | Pathogenic | Myopia 26, X-linked, female-limited |
| RS2520934320 | Health Risk | Pathogenic/Likely pathogenic | Myopia 26, X-linked, female-limited |