Biology:VSX1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[1][2]

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 cone opsin 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 (PPCD) and keratoconus.[3][4] Two transcript variants encoding different isoforms have been found for this gene.[2]

References

  1. "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics 63 (2): 289–93. Apr 2000. doi:10.1006/geno.1999.6093. PMID 10673340. 
  2. 2.0 2.1 "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30813. 
  3. "VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation". Invest. Ophthalmol. Vis. Sci. 46 (1): 39–45. January 2005. doi:10.1167/iovs.04-0533. PMID 15623752. 
  4. "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. 2002. doi:10.1093/hmg/11.9.1029. PMID 11978762. 

Further reading