BCKDHA

GENERAL INFORMATION

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Gene name

BCKDHA

Gene description

Branched chain keto acid dehydrogenase E1, alpha polypeptide

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Not detected

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression with a granular, mitochondrial pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
HPA036640
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Not detected

Organ

Expression



GENE INFORMATION

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Gene name

BCKDHA (HGNC Symbol)

Synonyms

MSU, OVD1A

Description

Branched chain keto acid dehydrogenase E1, alpha polypeptide (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19

Cytoband

q13.2

Chromosome location (bp)

41397460 - 41431345

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000248098 (version 78.38)

Entrez gene

593

UniProt

P12694 (UniProt - Evidence at protein level)

neXtProt

NX_P12694

Antibodypedia

BCKDHA antibodies


PROTEIN BROWSER

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ENST00000269980
 
ENST00000457836
 
ENST00000541315
 
ENST00000542943
 
ENST00000544905
 
ENST00000595085
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BCKDHA-001 ENSP00000269980
ENST00000269980
P12694
Show all »
Show » Show » 445 50.5 No 0
BCKDHA-002 ENSP00000416000
ENST00000457836
P12694
Show all »
Show » Show » 448 50.8 No 0
BCKDHA-004 ENSP00000445809
ENST00000541315
Show » Show » 211 23.1 No 0
BCKDHA-006 ENSP00000445727
ENST00000544905
Show » 94 10.1 No 0
BCKDHA-007 ENSP00000440345
ENST00000542943
F5GXU9
Show all »
Show » Show » 328 36.2 No 0
BCKDHA-201 ENSP00000471150
ENST00000595085
Show » Show » 403 44.3 No 0