APRT wt Allele

Preferred Label : APRT wt Allele;

NCIt synonyms : Adenine Phosphoribosyltransferase wt Allele; AMP;

NCIt definition : Human APRT wild-type allele is located within 16q24 and is approximately 2 kb in length. This allele, which encodes adenine phosphoribosyltransferase protein, is involved in an AMP purine salvage reaction that recycles adenine into nucleic acids by formation of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. Defects in the APRT gene cause APRT deficiency, a disorder also known as 2,8-dihydroxyadenine urolithiasis.;

GenBank Accession Number : NM_000485;

Details

Origin ID

C50953;

UMLS CUI

C1706611;

OMIM relation
- Adenine phosphoribosyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 16: 87405879-87403380 [NCIt concept]
gene_in_chromosomal_location
- 16q24 [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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