RS1

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]

Description

Retinoschisin 1

Tissue specificity

Tissue enriched (retina)

Predicted location

Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

X (18639688 - 18672108)

Ensembl ID

ENSG00000102104  (ver. 103.38)

Orthologs

Mouse Rs1: ENSMUSG00000031293

UniProt

O15537

neXtProt

NX_O15537

Human splice variants
Mouse splice variants

Protein structure