Gene: VSX1

Alternate names for this Gene: CAASDS|KTCN|KTCN1|PPCD|PPCD1|PPD|RINX

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.21

Description of this Gene: visual system homeobox 1

Type of Gene: protein-coding

rs74315435 in VSX1 gene and CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME PMID 15051220 2004 VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

rs6115024 in VSX1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs576300014 in VSX1 gene and Keratoconus 1 PMID 18216574 2008 Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.

PMID 21976959 2011 Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

PMID 11978762 2002 VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

PMID 19956409 2009 A novel VSX1 mutation identified in an individual with keratoconus in India.

PMID 15623752 2005 VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

PMID 19763142 2010 Mutational screening of VSX1 in keratoconus patients from the European population.