![]() ![]() NM_001424040.1 → NP_001410969.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 7 precursor NM_001424039.1 → NP_001410968.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 6 precursor ![]() Status: REVIEWED Source sequence(s) AL049696, A元91595 UniProtKB/TrEMBL A0A0K2GN21 NM_001424038.1 → NP_001410967.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 5 precursor ![]() NM_001424037.1 → NP_001410966.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 4 precursor NM_001424036.1 → NP_001410965.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor Status: REVIEWED Description Transcript Variant: This variant (5) encodes the longest isoform (3). NM_001424035.1 → NP_001410964.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 3 precursor Location: 1 → 320 PTZ00182 3-methyl-2-oxobutanate dehydrogenase Provisional Variants 3 and 13 both encode the same isoform (2). The encoded isoform (2) is shorter than isoform 1. Status: REVIEWED Description Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. NM_001318975.1 → NP_001305904.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 2 Location: 66 → 390 PTZ00182 3-methyl-2-oxobutanate dehydrogenase Provisional Both variants 1 and 2 encode the same protein (isoform 1). Status: REVIEWED Description Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR compared to transcript variant 1. See identical proteins and their annotated locations for NP_000047.1 NM_000056.5 → NP_000047.1 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor NG_009775.3 RefSeqGene Range 5063.244662 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in ![]() These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Preferred Names 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial Names E1b-beta subunit of the branched-chain complex branched chain alpha-ketoacid dehydrogenase E1-beta subunit branched chain keto acid dehydrogenase E1 beta branched chain keto acid dehydrogenase E1, beta polypeptide branched-chain alpha-keto acid dehydrogenase E1 component beta chain testis secretory sperm-binding protein Li 240mP NP_000047.1 Expression Ubiquitous expression in liver (RPKM 2.7), fat (RPKM 2.3) and 25 other tissues See more Orthologs mouse all NEW Try the new Gene table Alternative splicing at this locus results in multiple transcript variants. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. This enzyme complex functions in the catabolism of branched-chain amino acids. Full Name branched chain keto acid dehydrogenase E1 subunit beta provided by HGNC Primary source HGNC:HGNC:987 See related Ensembl:ENSG00000083123 MIM:248611 AllianceGenome:HGNC:987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as E1B OVD1B BCKDE1B BCKDH E1-beta Summary This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. ![]()
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