MMAB Products

Description

MMAB encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. [provided by RefSeq]

Bioinformatics

Entrez	326625 Human
Uniprot	AAH05054 Human Q96EY8 Human NM_052845 Human NP_443077.1 Human
Product By Gene ID	326625
Alternate Names	MGC20496 EC 2.5.1.17 ATR c-diamide adenosyltransferase, mitochondrial cob(I)yrinic acid a methylmalonic aciduria (cobalamin deficiency) type B cob Methylmalonic aciduria type B protein ATP:corrinoid adenosyltransferase Cob(I)alamin adenosyltransferase ATP:cob(I)alamin adenosyltransferase cblB aquocob(I)alamin vitamin B12s adenosyltransferase methylmalonic aciduria (cobalamin deficiency) cblB type

Diseases related to MMAB

Discover more about diseases related to MMAB.

Methylmalonic Acidemia
Acidemia
Mastitis-metritis-agalactia Syndrome
Inborn Errors Of Metabolism
Mutation, Out-of-frame
Hyperlipidemia
Dysequilibrium Syndrome
Cholangiocarcinoma
Coronary Heart Disease
Homocystinuria
Cardiovascular Diseases
Vitamin B 12 Deficiency
Hereditary Diseases
Congenital Abnormality
Propionic Acidemia
Liver Carcinoma
Kidney Failure
Atherosclerosis

Pathways for MMAB

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Translation
Insulin Secretion
Regulation Of Gene Expression
Localization
Secretion

PTMs for MMAB

Learn more about PTMs related to MMAB.

Adenosylation

Bioinformatics Tool for MMAB

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