Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BCKDHA | contributors: mct - updated : 07-02-2018 |
HGNC name | branched chain keto acid dehydrogenase E1, alpha polypeptide |
HGNC id | 986 |
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Corresponding disease |
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Location | 19q13.2 Physical location : 41.903.693 - 41.930.909 | ||
Synonym name | |||
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Synonym symbol(s) | BKADE1A, BKE1A, FLJ45695, MSU, BCKDE1A, MSUD1, OVD1A | ||
EC.number | 1.2.4.4 |
DNA |
TYPE | functioning gene |
STRUCTURE | 28.22 kb 9 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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mono polymer | heteromer , tetramer |
HOMOLOGY |
interspecies | ortholog to murine Bckdha |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,inner | |
intracellular,cytoplasm,organelle,mitochondria,matrix |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | aminoacid |
signaling |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule | cofactor, |
thiamine pyrophosphate |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | MSUD1A |
related resource | MITOP database |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |