Methylmalonyl-CoA Mutase

Alternative Names

MMUT
MUT
Methylmalonyl-Coa Isomerase
MCM

Length

32,939 bases

No. of Exons

Protein Name

Methylmalonyl-CoA mutase, mitochondrial

Molecular Mass

83134 Da

Amino Acid Count

750

Genomic Location

chr6:49,430,359-49,463,297

Gene Map Locus

6p12.3

Description

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000255.4:c.1420C>T	United Arab Emirates	NC_000006.12:g.49448840G>A	Pathogenic	Likely Pathogenic	Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency	NG_007100.1:g.19300C>T; NM_000255.4:c.1420C>T; NP_000246.2:p.Arg474Ter	887126161	554873
NM_000255.4:c.2080C>T	United Arab Emirates	NC_000006.12:g.49435500G>A	Pathogenic	Likely Pathogenic	Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency	NG_007100.1:g.32640C>T; NM_000255.4:c.2080C>T; NP_000246.2:p.Arg694Trp	777758903	218996

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External Links

https://medlineplus.gov/genetics/gene/mmut/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=mmut

Contributors

Asha Deepthi: 16.06.2021

Edit History

Pratibha Nair: 30.06.2022
Asha Deepthi: 16.06.2021

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