Preferred Label : TAP1 wt Allele;
NCIt synonyms : APT1; PSF1; Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR/TAP) wt Allele; ABCB2; D6S114E; TAP1; RING4; ABC17; Transporter, ATP-Binding Cassette, Major Histocompatibility Complex, 1 Gene; TAP1N; TAP1*0102N; ATP-Binding Cassette, Sub-Family B, Member 2 Gene; ABC Transporter, MHC, 1 Gene; ATP-Binding Cassette Transporter, Major Histocompatibility Complex, 1 Gene; Really Interesting New Gene 4; ABC Transporter, MHC 1 Gene; Y3; PSF-1; ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 2 Gene; ATP-Binding Cassette, Subfamily B, Member 2 Gene;
NCIt definition : Human TAP1 wild-type allele is located in the vicinity of 6p21.3 and is approximately
9 kb in length. This allele, which encodes antigen peptide transporter 1 protein,
is involved in the presentation of antigen fragments to major histocompatibiltiy complex
class I proteins. Mutations in the gene are associated with with ankylosing spondylitis,
insulin-dependent diabetes mellitus, type I bare lymphocyte syndrome and celiac disease.;
NCIt note : The TAP1 gene has 5 common alleles.;
GenBank Accession Number : NM_000593;
Origin ID : C52304;
UMLS CUI : C1704919;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
