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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
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,
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

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Gene: BCKDHB ENSG00000083123

Summary