Gene Symbol | VSX1 |
Entrez Gene ID | 30813 |
Full Name | visual system homeobox 1 |
Synonyms | CAASDS,KTCN,KTCN1,PPCD,PPCD1,PPD,RINX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Keratoconus 1, 148300 (3); ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3) |