Visual System Homeobox Protein 2 (VSX2)

HOX10; MCOP2; MCOPCB3; RET1; CHX10; C Elegans Ceh-10 Homeo Domain-Containing Homolog

SPN	N743
HGNC	1975
MGI	88401
PubMed	10932181
RGD	621215
UniProt	P58304
Wiki	VSX2

HOX10 encodes a developmentally regulated homeobox originally identified by De Chen et al. (1989) on the basis of its relatively abundant, retina-specific expression. Liu et al. (1994) cloned a mouse Chx10 cDNA.

Percin et al. (2000) cloned a human CHX10 cDNA encoding a deduced 361-amino acid polypeptide with 97% overall identity to mouse Chx10 and complete identity in the homeodomain and CVC domain. In situ hybridization to human fetal retinal sections detected CHX10 expression in retinal neuroblasts at all stages examined. Human CHX10 is expressed in progenitor cells of the developing neuroretina and in the inner nuclear layer of the mature retina.

Reference

"Human microphthalmia associated with mutations in the retinal homeobox gene CHX10."
Nat. Genet. 25:397-401(2000) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds."
Hum. Genet. 115:302-309(2004) [PubMed] [Europe PMC] [Abstract]

"VSX2 mutations in autosomal recessive microphthalmia."
Mol. Vis. 17:2527-2532(2011) [PubMed] [Europe PMC] [Abstract]