Gene Symbol | PITX3 |
Entrez Gene ID | 5309 |
Full Name | paired like homeodomain 3 |
Synonyms | ASGD1,ASMD,ASOD,CTPP4,CTRCT11,PTX3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Anterior segment dysgenesis 1, multiple subtypes, 107250 (3); Cataract 11, multiple types, 610623 (3); Cataract 11, syndromic, 610623 (3) |