| Tbio | 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial |
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Comments
| Disease | Target Count |
|---|---|
| Maple syrup urine disease | 25 |
| Disease | Target Count |
|---|---|
| Maple syrup urine disease 1A | 1 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG Inparanoid |
| Macaque | EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG Inparanoid |
| Horse | EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG |
| Anole lizard | OMA EggNOG |
| Xenopus | OMA EggNOG Inparanoid |
| Zebrafish | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG Inparanoid |
| Fruitfly | EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26453840 | Five novel mutations in BCKDHA were identified in MSUD patients. |
| 24603436 | Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. |
| 24268812 | The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. |
| 23729548 | Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] |
| 22956686 | autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. |
| 22593002 | BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. |
| 21844576 | identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea |
| 20877624 | Observational study of gene-disease association. (HuGE Navigator) |
| 20431954 | Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. |
| 20136525 | Observational study of genetic testing. (HuGE Navigator) |
| More... |
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQP 1 - 70 NVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGT 71 - 140 HVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLA 141 - 210 TQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYR 211 - 280 GDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDE 281 - 350 VNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQL 351 - 420 RKQQESLARHLQTYGEHYPLDHFDK 421 - 445 //
| PMID | Year | Title |
|---|---|---|
| 26453840 | 2015 | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. |
| 24603436 | 2014 | Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease. |
| 24268812 | 2014 | Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan. |
| 23729548 | 2013 | Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease. |
| 22956686 | 2012 | Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. |
| 22593002 | 2012 | Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1? and E1?. |
| 21844576 | 2011 | Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
| 20833797 | 2011 | Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes. |
| 20431954 | 2010 | Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. |
| More... |
