BCKDHB

GENERAL INFORMATION

? »

Gene name

BCKDHB

Gene description

Branched chain keto acid dehydrogenase E1, beta polypeptide

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA031580
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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

Stomach

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

BCKDHB

Synonyms

Description

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

Entrez gene summary

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

Chromosome

6

Cytoband

q14.1

Chromosome location (bp)

80106647 - 80346270

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000083123 (version 78.38)

Entrez gene

594

UniProt

P21953 (UniProt - Evidence at protein level)

neXtProt

NX_P21953

Antibodypedia

BCKDHB antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000320393
 
ENST00000356489
 
ENST00000369760
 
ENST00000545529
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BCKDHB-002 ENSP00000358775
ENST00000369760
P21953
Show all »
Show » Show » 218 23.5 Yes 0
BCKDHB-004 ENSP00000318351
ENST00000320393
P21953
Show all »
Show » Show » 392 43.1 Yes 0
BCKDHB-005 ENSP00000348880
ENST00000356489
P21953
Show all »
Show » Show » 392 43.1 Yes 0
BCKDHB-201 ENSP00000443564
ENST00000545529
P21953
Show all »
Show » Show » 218 23.5 Yes 0