CRX (gene)
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Cone-rod homeobox protein is a protein that in humans is encoded by the CRX gene.[1][2][3]
Function
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.[3]
References
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External links
- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- CRX protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
