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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1988 Jun;42(6):839–846.

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

F D Ledley 1, M R Lumetta 1, H Y Zoghbi 1, P VanTuinen 1, S A Ledbetter 1, D H Ledbetter 1
PMCID: PMC1715214  PMID: 2897160

Abstract

Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human liver cDNA libraries. This clone has been used as a probe to determine the chromosomal location of the MCM gene and MUT locus. Southern blot analysis of DNA from human-hamster somatic-cell hybrid cell lines assigned the locus to region q12-p23 of chromosome 6. In situ hybridization further localized the locus to the region 6p12-21.2. A highly informative RFLP was identified at the MCM gene locus which will be useful for genetic diagnostic and linkage studies.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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