Symbol: Name: ID: |
VSX1 visual system homeobox 1 GFS:2492 |
Gene name: | VSX1 |
Chromosome: | 20p11.21 |
Previous Symbols: | PPCD |
Previous Names: | posterior polymorphous corneal dystrophy, "visual system homeobox 1 homolog, CHX10-like (zebrafish)" |
Aliases: | PPD |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1890816 | Rat Genome Database ID: | RGD:1305667 |
HGNC ID: | HGNC:12723 | RefSeq IDs: | NM_014588 |
Entrez Gene ID: | 30813 | Ensembl Gene ID: | ENSG00000100987 |
VEGA IDs: | OTTHUMG00000032111 | UniProt ID: | Q9NZR4 |
UCSC ID: | uc002wuf.2 | OMIM ID: | 605020 |
Pubmed: | PMID10673340 | ||
CCDS IDs: | CCDSCCDS13168.1 CCDS CCDS13169.1 |
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
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].
Function: Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.
Products for VSX1 gene
Catalog | Product Name | Application | Company |
GFS:E02492 | visual system homeobox 1; ELISA kit | ELISA | n/a |
GFS:A02492 | visual system homeobox 1; Anti | ANTIBODIES | n/a |
GFS:P02492 | visual system homeobox 1; Protien | Protien | n/a |