Gene Symbol | VSX2 |
Entrez Gene ID | 338917 |
Full Name | visual system homeobox 2 |
Synonyms | CHX10,HOX10,MCOP2,MCOPCB3,RET1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia with coloboma 3, 610092 (3); Microphthalmia, isolated 2, 610093 (3) |