About: MESDC2 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • MESDC2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 607783
GenBank_Accession_Number
  • D42039
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MESDC2 wt Allele
NCI_META_CUI
  • CL430681
EntrezGene_ID
  • 23184
HGNC_ID
  • HGNC:13520
FULL_SYN
  • UNQ1911/PRO4369SYNCI
  • BOCASYNCI
  • MESDSYNCI
  • MESDC2 wt AllelePTNCI
  • KIAA0081SYNCI
  • Mesoderm Development Candidate 2 wt AlleleSYNCI
DEFINITION
  • Human MESDC2 wild-type allele is located in the vicinity of 15q13 and is approximately 38 kb in length. This allele, which encodes LDLR chaperone MESD protein, plays a role in the modulation of the folding of low-density lipoprotein receptor family proteins. A patient with infantile sacrococcygeal teratoma was found to have a balanced chromosomal translocation t(12;15)(q13;q25) which fuses this gene and the SENP1 gene.NCI
code
  • C98088
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