Known Diseases associated with this Protein: |  BCKDK DEFICIENCY
| BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY (BCKDKD)
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069037 | Disease | p.ARG224PRO | Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) | | OMIM | 614901.0003 | Disease | p.ARG224PRO | BCKDK DEFICIENCY | | OMIM | 614901.0001 | Disease | p.ARG156TER | BCKDK DEFICIENCY |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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21431746
BCKD_HUMAN RecName: Full=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; AltName: Full=Branched-chain alpha-ketoacid dehydrogenase kinase; Short=BCKD-kinase; Short=BCKDHKIN; Flags: Precursor
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