VSX1 gene

visual system homeobox 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Craniofacial anomalies and anterior segment dysgenesis syndrome
  • Keratoconus 1
  • Posterior polymorphous corneal dystrophy 1

From UniProt:

Keratoconus 1 (KTCN1): Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. [MIM:148300]

Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS): A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. [MIM:614195]

Cytogenetic Location: 20p11.21, which is the short (p) arm of chromosome 20 at position 11.21

Molecular Location: base pairs 25,069,940 to 25,082,379 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p11.21, which is the short (p) arm of chromosome 20 at position 11.21
  • CAASDS
  • KTCN
  • KTCN1
  • PPCD
  • PPCD1
  • PPD
  • RINX