ABCG8 wt Allele

Preferred Label : ABCG8 wt Allele;

NCIt synonyms : ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 Gene; Sterolin 2 Gene; STSL1; ATP-Binding Cassette, Sub-Family G (WHITE), Member 8 (Sterolin 2) Gene; STSL; Gallbladder Disease 4 Gene; ATP-Binding Cassette, Subfamily G, Member 8 Gene; ATP Binding Cassette Subfamily G Member 8 wt Allele;

NCIt definition : Human ABCG8 wild-type allele is located in the vicinity of 2p21 and is approximately 51 kb in length. This allele, which encodes ATP-binding cassette sub-family G member 8 protein, plays a role in the absorption and excretion of sterols. Mutations in the gene are associated with sitosterolemia 1.;

GenBank Accession Number : AF320294;

Détails

Origin ID

C213834;

OMIM relation
- Atp-binding cassette, subfamily g, member 8 [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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