MMAB
genyn codio-protien yn y rhywogaeth Homo sapiens
Protein sy'n cael ei godio yn y corff dynol gan y genyn MMAB yw MMAB a elwir hefyd yn Methylmalonic aciduria (cobalamin deficiency) cblB type (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 12, band 12q24.11.[2]
MMAB | |||||||||||||||||
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Dynodwyr | |||||||||||||||||
Cyfenwau | MMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type, metabolism of cobalamin associated B | ||||||||||||||||
Dynodwyr allanol | OMIM: 607568 HomoloGene: 12680 GeneCards: MMAB | ||||||||||||||||
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Species | Bod dynol | Llygoden | |||||||||||||||
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RefSeq (mRNA) |
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RefSeq (protein) |
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Lleoliad (UCSC) | n/a | n/a | |||||||||||||||
PubMed search | [1] | n/a | |||||||||||||||
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Cyfystyron
golyguYn 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 MMAB.
- ATR
- cob
- cblB
- CFAP23
Llyfryddiaeth
golygu- "Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. ". Mol Genet Metab. 2009. PMID 19625202.
- "Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase. ". Biochemistry. 2008. PMID 18251506.
- "Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz. ". PLoS One. 2017. PMID 29190729.
- "High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. ". Mol Genet Metab. 2013. PMID 23707710.
- "Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.". Hum Mutat. 2010. PMID 20556797.