Gene: BCKDHB ENSG00000083123

Description

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

Gene Synonyms

E1B, dJ279A18.1

Location

Chromosome 6: 80,816,364-81,055,987 forward strand.

GRCh37:CM000668.1

About this gene

This gene has 7 transcripts (splice variants), 1 paralogue and is associated with 7 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000545529.1	BCKDHB-201	3767	218aa	ENSP00000443564.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T2J3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000320393.6	BCKDHB-004	3692	392aa	ENSP00000318351.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4994	B7ZB80 P21953 Q6LCK9	NM_183050.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000356489.5	BCKDHB-005	1514	392aa	ENSP00000348880.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4994	B7ZB80 P21953 Q6LCK9	NM_000056.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000369760.4	BCKDHB-002	743	218aa	ENSP00000358775.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5T2J3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000486968.1	BCKDHB-003	300	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000468520.1	BCKDHB-001	237	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000491328.1	BCKDHB-006	522	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: BCKDHB ENSG00000083123

Summary