About: Wolf-Hirschhorn Syndrome Candidate 1 Protein     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
  • Wolf-Hirschhorn Syndrome Candidate 1 Protein
rdfs:subClassOf
OMIM_Number
  • 602952
Semantic_Type
  • Amino Acid, Peptide, or Protein
  • Biologically Active Substance
Preferred_Name
  • Wolf-Hirschhorn Syndrome Candidate 1 Protein
UMLS_CUI
  • C1309784
Legacy_Concept_Name
  • Wolf-Hirschhorn_Syndrome_Candidate-1_Protein
FULL_SYN
  • NSD2 ProteinSYNCI
  • Wolf-Hirschhorn Syndrome Candidate 1 ProteinPTNCI
  • WHSC1 ProteinSYNCI
  • MMSET ProteinSYNCI
  • Multiple Myeloma Set Domain ProteinSYNCI
  • WHSC1SYNCI
  • Nuclear Set Domain-Containing 2 ProteinSYNCI
Swiss_Prot
  • O96028
DEFINITION
  • Encoded by human oncogene WHSC1 Gene, 1365-amino acid 152 kD Wolf-Hirschhorn Syndrome Candidate 1 Protein contains a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. WHSC1 is preferentially expressed in rapidly growing embryonic tissues, in a pattern corresponding to affected organs in WHS patients. The nature of the protein motifs and expression pattern suggest that WHSC1 is a good candidate responsible for many of the phenotypic features of WHS; a malformation syndrome associated with hemizygous deletion of the chromosome 4 distal short arm. (OMIM, Swiss-Prot, LocusLink, and NCI)NCI
code
  • C21454
http://linked.open...y/mesh/hasConcept
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