C116409Level 5
ABCA1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human ABCA1 wild-type allele is located in the vicinity of 9q31 and is approximately 147 kb in length. This allele, which encodes ATP-binding cassette sub-family A member 1 protein, is involved in intracellular cholesterol transport. Mutation of the gene is associated with high density lipoprotein deficiency type 2 (autosomal dominant) and Tangier disease.
**Synonyms:** - ABC-1 - ABC1 - ATP-Binding Cassette, Sub-Family A (ABC1), Member 1 wt Allele - ATP-Binding Cassette, Subfamily A, Member 1 Gene - CERP - HDLDT1 - TGD - Tangier Disease Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.