QuickView for tmgc1;jsessionid=AF8E316293AF98980988B72ACA7A4C84;jsessionid=C4B201EB166C100F94A347A831130BBF (gene)

Gene Symbol:

RS1 Homo sapiens

Full name:

retinoschisin 1

Synonyms:

RS, XLRS1, retinoschisin, X-linked juvenile retinoschisis protein

Genomic Location:

Chr X: 18567729-18600150

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 ma...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Danio rerio ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NKX3A_01 ,  TGACCTY_ERR1_Q2 ,  CEBPB_02 ,  CEBP_Q3 ,  ERR1_Q2 ,  TGACCTTG_SF1_Q6

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-150

Cytogenetic Map:

Xp22.13

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