Human (GRCh38.p14)
Description

branched chain keto acid dehydrogenase E1 subunit alpha [Source:HGNC Symbol;Acc:HGNC:986]

Gene Synonyms

MSU, OVD1A

Location

Chromosome 19: 41,397,808-41,425,002 forward strand.

GRCh38:CM000681.2

About this gene

This gene has 8 transcripts (splice variants), 189 orthologues, 2 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000269980.7BCKDHA-2011742445aaENSP00000269980.2
 
Protein coding
CCDS12581P12694-1 NM_000709.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000457836.6BCKDHA-2021745448aaENSP00000416000.2
 
Protein coding
P12694-2 -GENCODE basicTSL:2
ENST00000542943.5BCKDHA-206994328aaENSP00000440345.1
 
Protein coding
F5GXU9 -TSL:5CDS 3' incomplete
ENST00000541315.1BCKDHA-205632211aaENSP00000445809.1
 
Protein coding
H0YH31 -TSL:3CDS 5' and 3' incomplete
ENST00000544905.1BCKDHA-20756294aaENSP00000445727.1
 
Protein coding
H0YH20 -TSL:2CDS 5' incomplete
ENST00000535632.5BCKDHA-203615No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000538423.5BCKDHA-204816No protein-
 
Retained intron
--TSL:5
ENST00000545787.1BCKDHA-208587No protein-
 
Retained intron
--TSL:3