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RS1 retinoschisin 1

Gene ID: 6247, updated on 25-Jan-2022
Gene type: protein coding
Also known as: RS; XLRS1

Summary

This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-08-02)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-02)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xp22.13
Sequence:
Chromosome: X; NC_000023.11 (18639688..18672108, complement)
Total number of exons:
6

Links

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