BCKDHB

BCKDHB
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1DTW, 1OLS, 1OLU, 1OLX, 1U5B, 1V11, 1V16, 1V1M, 1V1R, 1WCI, 1X7W, 1X7X, 1X7Y, 1X7Z, 1X80, 2BEU, 2BEV, 2BEW, 2BFB, 2BFC, 2BFD, 2BFE, 2BFF, 2J9F
Dynodwyr
Cyfenwau	BCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
Dynodwyr allanol	OMIM: 248611 HomoloGene: 39 GeneCards: BCKDHB
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • oxidoreductase activity • GO:0001948, GO:0016582 protein binding • 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity • catalytic activity Cydrannau o'r gell • mitochondrial matrix • mitochondrial alpha-ketoglutarate dehydrogenase complex • mitocondria Prosesau biolegol • metabolaeth • branched-chain amino acid catabolic process • response to nutrient Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	594	n/a
Ensembl	ENSG00000083123	n/a
UniProt	P21953	n/a
RefSeq (mRNA)	NM_000056 NM_183050 NM_001318975	n/a
RefSeq (protein)	NP_000047 NP_001305904 NP_898871	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn BCKDHB yw BCKDHB a elwir hefyd yn Branched chain keto acid dehydrogenase E1 subunit beta (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 6, band 6q14.1.

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 BCKDHB.

• E1B
• BCKDE1B
• BCKDH*E1-beta

Llyfryddiaeth

• "Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease. ". Metab Brain Dis. 2015. PMID 26239723.
• "Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD). ". Gene. 2012. PMID 22326532.
• "Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure. ". Fertil Steril. 2008. PMID 17524396.
• "The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism. ". J Biol Chem. 2007. PMID 17329260.
• "A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase.". Structure. 2006. PMID 16472748.