About: NEFL 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
  • NEFL wt Allele
rdfs:subClassOf
OMIM_Number
  • 162280
GenBank_Accession_Number
  • NM_006158
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NEFL wt Allele
UMLS_CUI
  • C2981619
EntrezGene_ID
  • 4747
HGNC_ID
  • HGNC:7739
FULL_SYN
  • Neurofilament, Light Polypeptide wt AlleleSYNCI
  • Neurofilament, Light Polypeptide 68kDa GeneSYNCI
  • NEFL wt AllelePTNCI
  • NFLSYNCI
  • NF68SYNCI
  • NF-LSYNCI
  • CMT1FSYNCI
  • CMT2ESYNCI
  • FLJ53642SYNCI
DEFINITION
  • NCIHuman NEFL wild-type allele is located in the vicinity of 8p21 and is approximately 6 kb in length. This allele, which encodes neurofilament light polypeptide protein, plays a role in both the establishment and maintenance of axonal and dendritic structures. Mutation of the gene is associated with Charcot-Marie-Tooth disease types 1F and 2E.
code
  • C88042
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