C200284Level 6
CRX wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CRX wild-type allele is located in the vicinity of 19q13.33 and is approximately 24 kb in length. This allele, which encodes cone-rod homeobox protein, plays a role in transcriptional regulation of photoreceptor-specific genes. Mutation of the gene is associated with cone-rod retinal dystrophy 2 and Leber congenital amaurosis 7.
**Synonyms:** - CORD2 - CRD - Cone-Rod Homeobox wt Allele - Cone-Rod Homeobox-Containing Gene - LCA7 - OTX3 - Orthodenticle Homeobox 3 Gene
GET
/api/v1/systems/nci_thesaurus/nodes/C200284Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.