Terminology Service for NFDI4Health

PLP1 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C75898


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. [ ]

Term info

Label

PLP1 wt Allele

Synonyms
  • MMPL
  • PLP
  • PLP/DM20
  • PLP1 wt Allele
  • PMD
  • Proteolipid Protein 1 (Pelizaeus-Merzbacher Disease, Spastic Paraplegia 2, Uncomplicated) wt Allele
  • SPG2
Legacy Concept Name

PLP1_wt_Allele

OMIM Number

300401

Preferred Name

PLP1 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C2698697

code

C75898