About: PMP22 wt Allele     Goto   Sponge   Distinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • PMP22 wt Allele
rdfs:subClassOf
OMIM_Number
  • 601097
GenBank_Accession_Number
  • D11428
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PMP22 wt Allele
UMLS_CUI
  • C2698698
EntrezGene_ID
  • 5376
Legacy_Concept_Name
  • PMP22_wt_Allele
HGNC_ID
  • HGNC:9118
FULL_SYN
  • DSSSYNCI
  • PMP22 wt AllelePTNCI
  • HNPPSYNCI
  • GAS-3SYNCI
  • CMT1ASYNCI
  • Sp110SYNCI
  • CMT1ESYNCI
  • Peripheral Myelin Protein 22 wt AlleleSYNCI
  • HMSNIASYNCI
  • MGC20769SYNCI
DEFINITION
  • Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein 22, plays a role in the modulation of the structure of myelin. Mutation of the gene is associated with Charcot-Marie-Tooth disease Types IA and IE, Dejerine-Sottas syndrome, inflammatory demyelinating polyneuropathy and hereditary neuropathy with liability to pressure palsies.NCIUniProt
code
  • C75901
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