EC Number   |
Application |
Reference |
|---|
    6.4.1.4 | agriculture |
MCCase is of significance in comprehending how the mevalonate shunt can divert carbon away from the biosynthesis of isoprenoids, such as cholesterol, which has major implications in the prevention of vascular degenerate diseases |
652078 |
| 6.4.1.4 | medicine |
studies of the c.1054G3A mutation in exon 11 of subunit MCCB detected in the homozygous state in a patient with 3-methylcrotonyl-CoA carboxylase deficiency. Sequence analysis of MCCB cDNA revealed two overlapping transcripts, one containing the normal 73 bp of exon 11 including the missense mutation c.1054G3A, i.e. p.G352R, the other with exon 11 replaced by a 64-bp sequence from intron 10, i.e. cryptic exon 10a that maintains the reading frame and is flanked by acceptable splice consensus sites. Both transcripts lack detectable 3-methylcrotonyl-CoA carboxylase activity. The reduction in utilization of exon 11 associated with the c.1054G3A mutation is due to alteration of this exon splice enhancer |
704552 |
| 6.4.1.4 | medicine |
study of a family with 3-methylcrotonyl-CoA carboxylase deficiency with different clinical features. The three patients display elevated urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, elevated 3-hydroxyisovalerylcarnitine and decreased free carnitine levels. Methylcrotonyl-CoA carboxylase activity in cultured fibroblasts displays a low residual activity of 2.2% of the median control value while propionyl-CoA carboxylase activity is normal in the index patient. Mutation analysis reveals a large homozygous deletion of 2264 bp, i.e. c.873þ4524_6787de12264 in the subunit MCCA gene |
704814 |
