VSX1, Official Symbol VSX1provided by HGNC Official Full Name visual system homeobox 1provided by HGNC Primary source HGNC:HGNC:12723 See related Ensembl:ENSG00000100987 MIM:605020; AllianceGenome:HGNC:12723 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS 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] Expression Low expression observed in reference dataset See more Orthologs mouse all