PLP1 wt Allele

Preferred Label : PLP1 wt Allele;

NCIt synonyms : SPG2; PLP/DM20; Proteolipid Protein 1 (Pelizaeus-Merzbacher Disease, Spastic Paraplegia 2, Uncomplicated) wt Allele; PMD; PLP; MMPL;

NCIt definition : Human PLP1 wild-type allele is located in the vicinity of Xq22 and is approximately 16 kb in length. This allele, which encodes myelin proteolipid protein, plays a role in the modulation of neuronal development and function. Mutation of the gene is associated with both Pelizaeus-Merzbacher disease and spastic paraplegia type 2.;

GenBank Accession Number : M27110;

Details

Origin ID

C75898;

UMLS CUI

C2698697;

False automatic mappings
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Spastic paraplegia type 2 [ORDO Disease]
OMIM relation
- Proteolipid protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Pelizaeus-Merzbacher Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq22 [NCIt concept]
gene_plays_role_in_process
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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