PGAP3 wt Allele

Preferred Label : PGAP3 wt Allele;

NCIt synonyms : CAB2; Post-GPI Attachment to Proteins 3 wt Allele; PERLD1; Gene Coamplified wth ERBB2; AGLA546; UNQ546/PRO1100; PP1498; hCOS16; MGC9753;

NCIt definition : Human PGAP3 wild-type allele is located in the vicinity of 17q21.2 and is approximately 26 kb in length. This allele, which encodes post-GPI attachment to proteins factor 3 protein, plays a role in posttranslational protein modifications. Mutations in this gene are associated with autosomal recessive neurologic hyperphosphatasia with cognitive disability type 4 (HPMRS4).;

NCI Metathesaurus CUI : CL552009;

GenBank Accession Number : AB088396;

Details

Origin ID

C150292;

UMLS CUI

C4723861;

Automatic exact mappings (from CISMeF team)
- Post-gpi attachment to proteins 3 [OMIM gene]
- post-GPI attachment to proteins phospholipase 3 [ORDO Gene]
OMIM relation
- Post-gpi attachment to proteins 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.2 [NCIt concept]
gene_plays_role_in_process
- Phospholipid Metabolism [NCIt concept]
- Post-Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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