C213809Level 5
ABCG5 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human ABCG5 wild-type allele is located in the vicinity of 2p21 and is approximately 33 kb in length. This allele, which encodes ATP-binding cassette sub-family G member 5 protein, is involved in sterol homeostasis. Mutations in the gene are associated with sitosterolemia 2.
**Synonyms:** - ATP Binding Cassette Subfamily G Member 5 wt Allele - ATP-Binding Cassette, Sub-Family G (WHITE), Member 5 Gene - ATP-Binding Cassette, Subfamily G, Member 5 Gene - STSL - STSL2 - Sterolin 1 Gene
GET
/api/v1/systems/nci_thesaurus/nodes/C213809Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.