About: CP 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
  • CP wt Allele
rdfs:subClassOf
OMIM_Number
  • 117700
GenBank_Accession_Number
  • NM_000096
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CP wt Allele
EntrezGene_ID
  • 1356
HGNC_ID
  • HGNC:2295
FULL_SYN
  • CP wt AllelePTNCI
  • EJ30SYNCI
  • Ceruloplasmin (Ferroxidase) wt AlleleSYNCI
DEFINITION
  • Human CP wild-type allele is located within 3q23-q25 and is approximately 60 kb in length. This allele, which encodes ceruloplasmin protein, plays a role in iron homeostasis and neuronal survival. Mutations cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities.NCI
code
  • C104138
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