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PMID:21071250
| Citation |
Nguyen, KV, Naviaux, RK, Patra, S, Barshop, BA and Nyhan, WL (2011) Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol. Genet. Metab. 102:218-21 |
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| Abstract |
Methylcrotonylglycinuria (MCG) is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The clinical phenotypes are highly variable ranging from neonatal onset with severe neurological involvement to asymptomatic adults. Here we identified two novel MCCA (exon 3: c.137G>A; p.46G>E), (IVS7-1G>A splice site mutation), and four novel MCCB (exon 11: c.1065A>T; p.355L>F), (exon 15: c.1430A>G; p.477Q>R), (exon 16: c.1549G>A; p.517G>R), (exon 16: c.1559A>C; p.520Y>S) mutant alleles from five MCC-deficient patients. |
| Links |
PubMed Online version:10.1016/j.ymgme.2010.10.008 |
| Keywords |
Amino Acid Sequence; Carbon-Carbon Ligases/chemistry; Carbon-Carbon Ligases/deficiency; Carbon-Carbon Ligases/genetics; Carbon-Carbon Ligases/metabolism; Humans; Leukocytes, Mononuclear/enzymology; Metabolism, Inborn Errors/diagnosis; Metabolism, Inborn Errors/genetics; Molecular Sequence Data; Mutation; Sequence Alignment; Urea Cycle Disorders, Inborn |
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Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
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See also
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