PMP2 wt Allele

Preferred Label : PMP2 wt Allele;

NCIt synonyms : FABP8; MP2; Peripheral Myelin Protein 2 wt Allele; P2; M-FABP;

NCIt definition : Human PMP2 wild-type allele is located within 8q21.3-q22.1 and is approximately 7 kb in length. This allele, which encodes myelin P2 protein, plays a role in lipid transport.;

NCIt note : Mutation of the PMP2 gene may be associated with type 1 Charcot-Marie-Tooth disease. (Brain. 2016; 139: 1649-1656. doi: http://dx.doi.org/10.1093/brain/aww055.);

NCI Metathesaurus CUI : CL514395;

GenBank Accession Number : X62167;

Details

Origin ID

C131266;

UMLS CUI

C4318751;

Automatic exact mappings (from CISMeF team)
- Macrophage expressed gene 1 [OMIM gene]
- P2 Ag [LOINC component]
- Peripheral myelin protein 2 [OMIM gene]
- peripheral myelin protein 2 [ORDO Gene]
- secondary prevention [Q-code]
- spin-flip method [IUPAC Term]
OMIM relation
- Peripheral myelin protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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