VSX1

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.[5][6]

VSX1
Identifiers
AliasesVSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
External IDsOMIM: 605020 MGI: 1890816 HomoloGene: 8743 GeneCards: VSX1
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20p11.21Start25,070,885 bp[1]
End25,082,365 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

30813

114889

Ensembl

ENSG00000100987

ENSMUSG00000033080

UniProt

Q9NZR4

Q91V10

RefSeq (mRNA)

NM_001256271
NM_001256272
NM_014588
NM_199425
NM_001378633

NM_054068

RefSeq (protein)

NP_001243200
NP_001243201
NP_055403
NP_955457
NP_001365562

NP_473409

Location (UCSC)Chr 20: 25.07 – 25.08 MbChr 2: 150.68 – 150.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 (PPCD) and keratoconus.[7][8] Two transcript variants encoding different isoforms have been found for this gene.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000100987 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000033080 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). "Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues". Genomics. 63 (2): 289–93. doi:10.1006/geno.1999.6093. PMID 10673340.
  6. "Entrez Gene: VSX1 visual system homeobox 1 homolog, CHX10-like (zebrafish)".
  7. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L (January 2005). "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. doi:10.1167/iovs.04-0533. PMID 15623752. Archived from the original on 2013-04-15.
  8. Héon E, Greenberg A, Kopp KK, et al. (2002). "VSX1: a gene for posterior polymorphous dystrophy and keratoconus". Hum. Mol. Genet. 11 (9): 1029–36. doi:10.1093/hmg/11.9.1029. PMID 11978762.

Further reading


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