About: SMPD1 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
  • SMPD1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 607608
GenBank_Accession_Number
  • AB209775
Semantic_Type
  • Gene or Genome
Preferred_Name
  • SMPD1 wt Allele
EntrezGene_ID
  • 6609
HGNC_ID
  • HGNC:11120
FULL_SYN
  • ASMSYNCI
  • SMPD1 wt AllelePTNCI
  • NPDSYNCI
  • ASMASESYNCI
  • Sphingomyelin Phosphodiesterase 1, Acid Lysosomal wt AlleleSYNCI
DEFINITION
  • Human SMPD1 wild-type allele is located within 11p15.4-p15.1 and is approximately 5 kb in length. This allele, which encodes sphingomyelin phosphodiesterase protein, is involved in ceramide biosynthesis. Mutation of the gene is associated with Niemann-Pick disease type A and type B.NCI
code
  • C105020
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