Metabolism of Cobalamin Associated B

Alternative Names

  • MMAB
  • CoB(I)Alamin Adenosyltransferase
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OMIM Number

607568

NCBI Gene ID

326625

Uniprot ID

Q96EY8

Length

19,866 bases

No. of Exons

13

No. of isoforms

1

Protein Name

Corrinoid Adenosyltransferase

Molecular Mass

27388 Da

Amino Acid Count

250

Genomic Location

chr12:109,553,714-109,573,579

Gene Map Locus
12q24.11

Description

The MMAB gene has been mapped to chromosome 12q24.11, where it encodes an enzyme of 250 amino acids that plays a role in the formation of a complex called adenosylcobalamin (AdoCbl). The MMAB enzyme is active in the mitochondria, where it catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl). The AdoCbl complex plays an important role in the normal function of an enzyme called methylmalonyl CoA mutase. Defects in this enzyme are the cause of methylmalonic acidemia, an autosomal recessive disease characterized by feeding difficulties, developmental delay, and long-term health problems.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_052845.3:c.349-536=United Arab EmiratesNC_000012.12:g.109562388=NG_007096.1:g.16110=; NM_052845.3:c.349-536=; NP_443077.1:p.?7134594
NM_052845.4:c.197-1G>TUnited Arab EmiratesNC_000012.12:g.109568864C>APathogenicLikely Pathogenic, PathogenicMethylmalonic Aciduria, cblB TypeNG_007096.1:g.9634G>T; NM_052845.4:c.197-1G>T; NP_443077.1:p.?763935916219008
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