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Gene : BCKDK Homo sapiens

Name  ? branched chain keto acid dehydrogenase kinase Cytological Location  16p11.2
Brief Description  branched chain keto acid dehydrogenase kinase
Description  The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
  • synonyms:
  • AF026548,
  • HGNC:16902,
  • BCKDKD,
  • uc059tky.1,
  • BDK,
  • NM_005881,
  • OTTHUMG00000047356,
  • BCKDK
  • identifiers:
  • 10295,
  • ENSG00000103507,
  • BCKDK

Genome feature

Region: gene ? Length: 9271  
Location: 16:31108381-31117651 Cyto location: 16p11.2


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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

868 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results