Gene table of MMAB : methylmalonic aciduria (cobalamin deficiency) cblB type

Gene-disease associations table

Disease IDDisease nameSource of annotation with MMABOMIM linkNumber of associated genesgenes
251110METHYLMALONIC ACIDURIA, CBLB TYPEClinVar, OMIM, HUMSAVAR link to OMIM 2MMAA, MMAB

Download the gene annotation in CSV format

Annotation of the gene MMAB

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Porphyrin and chlorophyll metabolismhsa008607.41
Metabolic pathwayshsa011002.49
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Defects in vitamin and cofactor metabolismR-HSA-32964828.52
Metabolism of vitamins and cofactorsR-HSA-1968546.54
Diseases of metabolismR-HSA-56689146.57
Defects in cobalamin (B12) metabolismR-HSA-32964699.28
Defective MMAB causes methylmalonic aciduria type cblBR-HSA-335947112.98
MetabolismR-HSA-14307282.34
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.54
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.73
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
nucleotide bindingGO:00001661.96
transferase activity, transferring alkyl or aryl (other than methyl) groupsGO:00167655.58
transferase activityGO:00167401.95
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
cob(I)yrinic acid a,c-diamide adenosyltransferase activityGO:00088179.74
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl ribonucleotide bindingGO:00325592.41
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19