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- Table of Contents
Designing an IHC experiment for BCKDK? The guide has the expected staining pattern, antigen retrieval and fixation, antibodies backed by real IHC images, the tissue controls to run alongside, and protocols taken from published papers.
Open the BCKDK IHC GuideFacts 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.