Human (GRCh38.p14)
Description

branched chain keto acid dehydrogenase E1 subunit beta [Source:HGNC Symbol;Acc:HGNC:987]

Location

Chromosome 6: 80,106,647-80,346,270 forward strand.

GRCh38:CM000668.2

About this gene

This gene has 6 transcripts (splice variants), 207 orthologues, 4 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000320393.9BCKDHB-2013668392aaENSP00000318351.5
 
Protein coding
CCDS4994P21953-1 NM_183050.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000356489.9BCKDHB-2021514392aaENSP00000348880.5
 
Protein coding
CCDS4994P21953-1 -GENCODE basicAPPRIS P1TSL:1
ENST00000369760.8BCKDHB-203743218aaENSP00000358775.4
 
Protein coding
P21953-2 -GENCODE basicTSL:3
ENST00000486968.1BCKDHB-205300No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000468520.1BCKDHB-204237No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000491328.1BCKDHB-206522No protein-
 
Retained intron
--TSL:2