About: PLP1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • PLP1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 300401
GenBank_Accession_Number
  • M27110
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PLP1 wt Allele
UMLS_CUI
  • C2698697
EntrezGene_ID
  • 5354
Legacy_Concept_Name
  • PLP1_wt_Allele
HGNC_ID
  • HGNC:9086
FULL_SYN
  • PLPSYNCI
  • PLP1 wt AllelePTNCI
  • PMDSYNCI
  • SPG2SYNCI
  • MMPLSYNCI
  • Proteolipid Protein 1 (Pelizaeus-Merzbacher Disease, Spastic Paraplegia 2, Uncomplicated) wt AlleleSYNCI
  • PLP/DM20SYNCI
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.NCI
code
  • C75898
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