ACP5 wt Allele

Preferred Label : ACP5 wt Allele;

NCIt synonyms : TRAP; SPENCDI; Acid Phosphatase 5, Tartrate Resistant wt Allele;

NCIt definition : Human ACP5 wild-type allele is located within 19p13.3-p13.2 and is approximately 4 kb in length. This allele, which encodes tartrate-resistant acid phosphatase type 5A protein, is involved in the modulation of dephosphorylation. Mutation of the gene is associated with spondyloenchondrodysplasia with immune dysregulation. Elevated expression of the gene is associated with Gaucher and Hodgkin diseases, and with hairy cell, B-cell, and T-cell leukemias.;

NCIt note : Expression of the APC5 gene in melanoma may be associated with metastatic potential. (Cancer Cell. 2011; 20: 92-103.);

GenBank Accession Number : X14618;

Details

Origin ID

C99182;

UMLS CUI

C3274593;

OMIM relation
- Phosphatase, acid, type 5, tartrate-resistant [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3-p13.2 [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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