BCKDHB |
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Strwythurau |
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PDB | Human UniProt search: PDBe RCSB |
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Rhestr o ddynodwyr PDB |
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1DTW, 1OLS, 1OLU, 1OLX, 1U5B, 1V11, 1V16, 1V1M, 1V1R, 1WCI, 1X7W, 1X7X, 1X7Y, 1X7Z, 1X80, 2BEU, 2BEV, 2BEW, 2BFB, 2BFC, 2BFD, 2BFE, 2BFF, 2J9F |
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Dynodwyr |
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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 |
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Dynodwyr allanol | OMIM: 248611 HomoloGene: 39 GeneCards: BCKDHB |
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Orthologau |
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Species | Bod dynol | Llygoden |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Lleoliad (UCSC) | n/a | n/a |
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PubMed search | [1] | n/a |
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Wicidata |
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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.[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 BCKDHB.
- E1B
- BCKDE1B
- BCKDH*E1-beta
- "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.