About: AHCY 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
  • AHCY wt Allele
rdfs:subClassOf
OMIM_Number
  • 180960
GenBank_Accession_Number
  • M61832
Semantic_Type
  • Gene or Genome
Preferred_Name
  • AHCY wt Allele
EntrezGene_ID
  • 191
HGNC_ID
  • HGNC:343
FULL_SYN
  • Adenosylhomocysteinase wt AlleleSYNCI
  • AHCY wt AllelePTNCI
  • SAHHSYNCI
  • adoHcyaseSYNCI
DEFINITION
  • Human AHCY wild-type allele is located in the vicinity of 20q11.22 and is approximately 32 kb in length. This allele, which encodes adenosylhomocysteinase protein, is involved in the metabolism of amino acids. Mutation of the gene is associated with hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.NCI
code
  • C104864
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