ACP2 wt Allele

Preferred Label : ACP2 wt Allele;

NCIt synonyms : LAP; ACP2--Beta Polypeptide Gene; Phosphatase, Acid, of Tissues Gene; Acid Phosphatase 2, Lysosomal wt Allele;

NCIt definition : Human ACP2 wild-type allele is located in the vicinity of 11p11.2 and is approximately 9 kb in length. This allele, which encodes lysosomal acid phosphatase protein, is involved in phosphate metabolism. Mutation of the gene is associated with lysosomal acid phosphatase deficiency.;

NCIt note : A C-terminally extended isoform is also predicted to be encoded by an alternative ACP2 transcript caused via a stop codon readthrough mechanism. (EntrezGene);

NCI Metathesaurus CUI : CL1773158;

GenBank Accession Number : X15525;

Details

Origin ID

C185000;

UMLS CUI

C5575443;

OMIM relation
- Acid phosphatase 2, lysosomal [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p11.2 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Riboflavin Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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