(Q18035201)

English

BCKDK

protein-coding gene in the species Homo sapiens

BCKDKD
BDK
branched chain ketoacid dehydrogenase kinase
branched chain keto acid dehydrogenase kinase

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No description defined

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Statements

1 reference

1 reference

Protein BCKDK PDB 1gjv.png
924 × 773; 394 KB

0 references

1 reference

Branched chain keto acid dehydrogenase kinase

1 reference

6 July 2017

Branched chain ketoacid dehydrogenase kinase, isoform CRA_b

1 reference

21 March 2016

language of work or name

English

genetic association

branched-chain keto acid dehydrogenase kinase deficiency

5 references

13 August 2019

4 May 2020

https://search.clinicalgenome.org/kb/gene-validity/f90aaad0-b56a-41dc-8d1f-9d12fc66113f--2019-01-08T17:00:00

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/f90aaad0-b56a-41dc-8d1f-9d12fc66113f--2019-01-18T17:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f90aaad0-b56a-41dc-8d1f-9d12fc66113f-2019-01-18T170000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000103507/MONDO_0013970

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 16

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

31106107

genome assembly GRCh38

1 reference

31117428

Genome assembly GRCh37

1 reference

31112791

genome assembly GRCh38

1 reference

31124110

Genome assembly GRCh37

1 reference

16p11.2

1 reference

15 May 2022

37642

1 reference

15 May 2022

PBB GE BCKDK 202030 at fs.png
732 × 530; 11 KB

0 references

2 references

37642

https://omabrowser.org/oma/vps/O14874/

PKP1

found in taxon

Saccharomyces cerevisiae S288c

1 reference

37642

1 reference

37642

2 references

37642

https://omabrowser.org/oma/vps/O14874/

expressed in

apex of heart

series ordinal

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

right adrenal gland

series ordinal

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

right adrenal cortex

series ordinal

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

body of pancreas

series ordinal

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

left adrenal gland

series ordinal

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

left adrenal cortex

series ordinal

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

gastrocnemius muscle

series ordinal

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

muscle of thigh

series ordinal

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

left ventricle

series ordinal

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

parotid gland

series ordinal

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000103507

exact match

http://identifiers.org/ncbigene/10295

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(5 entries)

cywiki BCKDK
enwiki BCKDK
kowiki 가지사슬 케토산 탈수소효소 키네이스
ruwiki Киназа дегидрогеназы α-кетокислот с разветвлённой цепью
ukwiki BCKDK

(Q18035201)

BCKDK

Statements

Identifiers

Sitelinks

Wikipedia(5 entries)

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Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)