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- Table of Contents
Facts about [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial.
.
| Human | |
|---|---|
| Gene Name: | BCKDK |
| Uniprot: | O14874 |
| Entrez: | 10295 |

| Belongs to: |
|---|
| PDK/BCKDK protein kinase family |

BCKDHKIN; branched chain alpha-ketoacid dehydrogenase kinase; branched chain ketoacid dehydrogenase kinase; EC 2.7.11; EC 2.7.11.4; mitochondrial
Mass (kDA):
46.36 kDA

| Human | |
|---|---|
| Location: | 16p11.2 |
| Sequence: | 16; NC_000016.10 (31108381..31117651) |
Ubiquitous.
Mitochondrion matrix. Mitochondrion.





PMID: 22956686 by Novarino G., et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
PMID: 24449431 by Garcia-Cazorla A., et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.