Description
branched chain keto acid dehydrogenase E1, alpha polypeptide [Source:HGNC Symbol;Acc:986]
Gene Synonyms
BCKDE1A, MSU, MSUD1, OVD1A
Location
Chromosome 19: 41,884,215-41,930,910 forward strand.
GRCh37:CM000681.1
About this gene
This gene has 9 transcripts (splice variants), 3 paralogues and is associated with 7 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000269980.2 | BCKDHA-001 | 2103 | 445aa | ENSP00000269980.2 | Protein coding | CCDS12581 | P12694 Q59EI3 Q9UMB3 | NM_001164783.1 | GENCODE basic, |
ENST00000595085.1 | BCKDHA-201 | 1833 | 479aa | ENSP00000471150.1 | Protein coding | F5H5P2 Q9UMB3 | - | GENCODE basic, | |
ENST00000457836.2 | BCKDHA-002 | 1745 | 448aa | ENSP00000416000.2 | Protein coding | B4DP47 Q9UMB3 | - | GENCODE basic, | |
ENST00000542943.1 | BCKDHA-007 | 994 | 328aa | ENSP00000440345.1 | Protein coding | F5GXU9 | - | CDS 3' incomplete, | |
ENST00000541315.1 | BCKDHA-004 | 632 | 211aa | ENSP00000445809.1 | Protein coding | - | - | CDS 5' and 3' incomplete, | |
ENST00000544905.1 | BCKDHA-006 | 562 | 94aa | ENSP00000445727.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000535632.1 | BCKDHA-008 | 615 | No protein | - | Processed transcript | - | - | - | |
ENST00000538423.1 | BCKDHA-005 | 816 | No protein | - | Retained intron | - | - | - | |
ENST00000545787.1 | BCKDHA-009 | 587 | No protein | - | Retained intron | - | - | - |