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
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
	1629
	n/a
	ENSG00000137992
	n/a
	P11182
	n/a
	NM_001918
	n/a
	NP_001909
	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]

Cyfystyron

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.

E2
E2B
BCATE2
BCKADE2
BCKAD-E2
BCOADC-E2

Llyfryddiaeth

"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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] DBT - Cronfa NCBI

[1]

[2]