About: HIRA 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
  • HIRA wt Allele
rdfs:subClassOf
OMIM_Number
  • 600237
GenBank_Accession_Number
  • X75296
Semantic_Type
  • Gene or Genome
Preferred_Name
  • HIRA wt Allele
UMLS_CUI
  • C2697539
EntrezGene_ID
  • 7290
Legacy_Concept_Name
  • HIRA_wt_Allele
HGNC_ID
  • HGNC:4916
FULL_SYN
  • HIR Histone Cell Cycle Regulation Defective Homolog A (S. cerevisiae) wt AlleleSYNCI
  • HIRA wt AllelePTNCI
  • TUP1SYNCI
  • DGCR1SYNCI
  • TUPLE1SYNCI
DEFINITION
  • Human HIRA wild-type allele is located in the vicinity of 22q11.2 or 22q11.21 and is approximately 101 kb in length. This allele, which encodes protein HIRA, is involved in the modulation of chromatin structure. Haploinsufficiency of the gene may be a factor in DiGeorge syndrome.NCI
DesignNote
  • Hemizygous deletion of chromosome 22q11.2 causes haploinsufficiency of both the HIRA gene and the TBX1 gene and is associated with the 22q11.2 deletion syndrome. The phenotype of this syndrome can include symptoms of either velocardiofacial syndrome or DiGeorge syndrome or a combination of indications for both syndromes. (OMIM)
code
  • C75508
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