About: SDHA 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
  • SDHA wt Allele
rdfs:subClassOf
OMIM_Number
  • 600857
GenBank_Accession_Number
  • BC001380
Semantic_Type
  • Gene or Genome
Preferred_Name
  • SDHA wt Allele
NCI_META_CUI
  • CL438442
EntrezGene_ID
  • 6389
HGNC_ID
  • HGNC:10680
FULL_SYN
  • TAK1SYNCI
  • Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) wt AlleleSYNCI
  • SDHA wt AllelePTNCI
  • FPSYNCI
  • SDH1SYNCI
  • PGL5SYNCI
  • SDHFSYNCI
  • CMD1GGSYNCI
DEFINITION
  • Human SDHA wild-type allele is located in the vicinity of 5p15 and is approximately 38 kb in length. This allele, which encodes succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein, plays a role in cellular respiration. Mutation of the gene is associated with both mitochondrial complex II deficiency and cardiomyopathy dilated type 1GG.NCI
DesignNote
  • Mutation of the SDHA gene may be associated with Leigh syndrome, a condition that co-occurs with the deficiency of any of the mitochondrial respiratory chain complexes. (OMIM)
code
  • C103874
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