AIP wt Allele - CISMeF

Preferred Label : AIP wt Allele;

NCIt synonyms : ARA9; Aryl Hydrocarbon Receptor Interacting Protein wt Allele; FKBP16; SMTPHN; XAP2; FKBP37;

NCIt definition : Human AIP wild-type allele is located in the vicinity of 11q13.3 and is approximately 8 kb in length. This allele, which encodes AH receptor-interacting protein, plays a role in the regulation of receptor signaling. Mutation of this gene is associated with various pituitary adenomas.;

NCIt note : Mutation of the AIP gene may be associated with gigantism. (N Engl J Med. 2011; 364: 43-50.); Mutation of the AIP gene is associated with pituitary adenoma predisposition, familial isolated pituitary adenoma, growth hormone-secreting pituitary adenoma, ACTH-secreting pituitary adenoma, and prolactin-secreting pituitary adenoma. (UniProt);

GenBank Accession Number : U31913;

Details

Origin ID

C95462;

UMLS CUI

C2987163;

OMIM relation
- Aryl hydrocarbon receptor-interacting protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q13.3 [NCIt concept]
gene_is_element_in_pathway
- AHR Signal Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]

Keyword's position in hierarchy(ies) :

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