MMAB

Gene Name		methylmalonic aciduria (cobalamin deficiency) cblB type
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Gene Ontology Annotations	Cellular Component	Mitochondrial Matrix
	Molecular Function	ATP Binding Cob(I)yrinic Acid A,c-diamide Adenosyltransferase Activity
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Cobalamin Metabolic Process Cobalamin Biosynthetic Process Small Molecule Metabolic Process
Pathways		Metabolism of vitamins and cofactors Defective GIF causes intrinsic factor deficiency Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Defects in cobalamin (B12) metabolism Defects in vitamin and cofactor metabolism
Drugs		Hydroxocobalamin
Diseases
GWAS		HDL cholesterol ( 18193043 20864672 19060906 20686565)
Protein-protein Interactions		2 interactors: MTRR SPERT
Entrez ID		326625
HPRD ID		07398
Ensembl ID		ENSG00000139428
Uniprot IDs		Q96EY8
PDB IDs		2IDX
Enriched GO Terms of Interacting Partners?		Folic Acid Metabolic Process Methionine Biosynthetic Process Cobalamin Metabolic Process Methionine Metabolic Process Sulfur Amino Acid Biosynthetic Process Sulfur Amino Acid Metabolic Process Folic Acid-containing Compound Metabolic Process Pteridine-containing Compound Metabolic Process DNA Methylation Tetrapyrrole Metabolic Process Water-soluble Vitamin Metabolic Process DNA Modification Dicarboxylic Acid Metabolic Process Vitamin Metabolic Process Cellular Amino Acid Biosynthetic Process Xenobiotic Metabolic Process Cellular Response To Xenobiotic Stimulus Response To Xenobiotic Stimulus Regulation Of Gene Expression, Epigenetic Cellular Modified Amino Acid Metabolic Process Cellular Amide Metabolic Process Alpha-amino Acid Metabolic Process Cofactor Metabolic Process Sulfur Compound Metabolic Process Methylation Cellular Amino Acid Metabolic Process
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