Dbt Gene Search Result

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Genes search result for Homo sapiens
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4 records found for search term Dbt

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
68592	DBT	dihydrolipoamide branched chain transacylase E2	The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated ... (more) decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]	1	100186919	100249834	Human	296	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16557214	DBTP1	DBT pseudogene 1					Human		symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, processed_pseudogene
155638510	DBTP1	DBT pseudogene 1					Human		symbol , GTEx , COSMIC , name , Human Proteome Map	gene, pseudo
16570740	AL445928.2	novel transcript, antisense to DBT					Human		name	gene, lncrna