DBT

DBT
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1K8M, 1K8O, 1ZWV, 2COO, 3RNM
Dynodwyr
Cyfenwau	DBT, BCATE2, BCKAD-E2, BCKADE2, E2, E2B, BCOADC-E2, dihydrolipoamide branched chain transacylase E2, BCKDH-E2
Dynodwyr allanol	OMIM: 248610 HomoloGene: 1444 GeneCards: DBT
EC number	2.3.1.168
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • acyltransferase activity • ubiquitin protein ligase binding • transferase activity • dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity • acetyltransferase activity • lipoic acid binding Cydrannau o'r gell • mitochondrial matrix • mitochondrial alpha-ketoglutarate dehydrogenase complex • mitochondrial nucleoid • mitocondria • cytoplasm Prosesau biolegol • metabolaeth • branched-chain amino acid catabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1629	n/a
Ensembl	ENSG00000137992	n/a
UniProt	P11182	n/a
RefSeq (mRNA)	NM_001918	n/a
RefSeq (protein)	NP_001909	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn DBT yw DBT a elwir hefyd yn Dihydrolipoamide branched chain transacylase E2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 1, band 1p21.2.^[2]

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn DBT.

• "Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. ". Mol Genet Metab. 2010. PMID 20570198.
• "Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection. ". Pediatr Int. 2008. PMID 18533943.
• "Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex. ". J Biol Chem. 2006. PMID 16861235.
• "Characterization of a lipoyl domain-independent B-cell autoepitope on the human branched-chain acyltransferase in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis. ". Clin Dev Immunol. 2003. PMID 14768949.
• "Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.". J Biol Chem. 2001. PMID 11448970.