Metabolism of Cobalamin Associated A

Alternative Names

MMAA
MMAA Gene

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Length

40,649 bases

No. of Exons

No. of isoforms

Protein Name

Methylmalonic aciduria type A protein, mitochondrial

Molecular Mass

46538 Da

Amino Acid Count

418

Genomic Location

chr4:145,619,385-145,660,033

Gene Map Locus

4q31.21

Description

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_172250.3:c.433C>T	Qatar	NC_000004.12:g.145639572C>T	Likely Pathogenic, Pathogenic	Pathogenic		NG_007536.2:g.45531C>T; NM_172250.3:c.433C>T; NP_758454.1:p.Arg145Ter	104893851	3160

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External Links

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

Contributors

Sayeeda Hana: 19.12.2024

Edit History

Sayeeda Hana: 19.12.2024