About: BTK 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
  • BTK wt Allele
rdfs:subClassOf
OMIM_Number
  • 300300
GenBank_Accession_Number
  • AK057105
Semantic_Type
  • Gene or Genome
Preferred_Name
  • BTK wt Allele
UMLS_CUI
  • C2698304
EntrezGene_ID
  • 695
Legacy_Concept_Name
  • BTK_wt_Allele
HGNC_ID
  • HGNC:1133
FULL_SYN
  • BTK wt AllelePTNCI
  • ATSYNCI
  • BPKSYNCI
  • ATKSYNCI
  • XLASYNCI
  • IMD1SYNCI
  • AGMX1SYNCI
  • PSCTK1SYNCI
  • MGC126261SYNCI
  • MGC126262SYNCI
  • Bruton Agammaglobulinemia Tyrosine Kinase wt AlleleSYNCI
DEFINITION
  • Human BTK wild-type allele is located within Xq21.33-q22 and is approximately 37 kb in length. This allele, which encodes tyrosine-protein kinase BTK protein, plays a role in the mediation of signal transduction during B-cell development. Mutation of the gene is associated with X-linked agammaglobulinemia type 1.NCIOMIM
DesignNote
  • An intronic mutation of the BTK gene may be associated with X-linked hypogammaglobulinemia and isolated growth hormone deficiency. (OMIM)
code
  • C75014
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