Retinoschisin

Alternative Names

  • RS1
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OMIM Number

300839

NCBI Gene ID

6247

Uniprot ID

O15537

Length

32,421 bases

No. of Exons

6

Protein Name

Retinoschisin

Molecular Mass

25592 Da

Amino Acid Count

224

Genomic Location

chrX:18,639,687-18,672,107

Gene Map Locus
Xp22.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000330.4:c.304C>TUnited Arab EmiratesNC_000023.11:g.18647213G>ALikely Pathogenic, PathogenicLikely PathogenicRetinoschisis 1, X-Linked, JuvenileNG_008659.3:g.35236C>T; NM_000330.4:c.304C>T; NP_000321.1:p.Arg102Trp617520679887
NM_000330.4:c.52+3A>GUnited Arab EmiratesNC_000023.11:g.18672014T>CLikely Pathogenic, Uncertain SignificanceLikely PathogenicRetinoschisis 1, X-Linked, JuvenileNG_008659.3:g.10435A>G; NM_000330.4:c.52+3A>G; NP_000321.1:p.?1301833
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