ABCG5 wt Allele

Preferred Label : ABCG5 wt Allele;

NCIt synonyms : Sterolin 1 Gene; ATP-Binding Cassette, Sub-Family G (WHITE), Member 5 Gene; STSL2; STSL; ATP-Binding Cassette, Subfamily G, Member 5 Gene; ATP Binding Cassette Subfamily G Member 5 wt Allele;

NCIt 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.;

GenBank Accession Number : T93792;

Détails

Origin ID

C213809;

OMIM relation
- Atp-binding cassette, subfamily g, member 5 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p21 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

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