The MUT gene is associated with autosomal recessive methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 60% of isolated methylmalonic acidemia cases are due to pathogenic variants in the MUT gene (PMID:16281286).
The MUT gene encodes the methylmalonyl-CoA enzyme which is a component of propionate metabolism. Propionate metabolism is important for the catabolism of valine, methionine, isoleucine, threonine, and odd chain fatty acids into ultimately, succinyl-CoA, a component of the Krebs cycle. Specifically. methylmalonyl-CoA mutase converts L-methylmalonyl-CoA to succinyl-CoA. Adenosylcobalamin is a cofactor for this enzymatic reaction. Pathogenic variants in MUT lead to toxic accumulation of methylmalonic acid in the body (PMID: 8990001).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|