C215443Level 5
CHM wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CHM wild-type allele is located in the vicinity of Xq21.2 and is approximately 186 kb in length. This allele, which encodes Rab proteins geranylgeranyltransferase component A 1 protein, plays a role in the regulation of geranylgeranyltransferase activity. Mutations of the gene are associated with choroideremia.
**Synonyms:** - CHM Rab Escort Protein wt Allele - CHM, Rab Escort Protein 1 Gene - Choroideremia (Rab Escort Protein 1) Gene - DXS540 - GGTA - HSD-32 - RAB GG Transferase A Gene - RAB Geranylgeranyltransferase, Component A Gene - REP-1 - REP1 - Rab Escort Protein 1 Gene - TCD
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Cross-system equivalences0
No cross-system equivalences mapped for this node.