MMAB Chromosome 12
Metabolism of cobalamin associated B
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What This Gene Does
This gene 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. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000139428
Associated Conditions (7)
Methylmalonic aciduria
cblB type
MMAB-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Methylmalonic acidemia
Familial prostate cancer
Key Variants
RS111678627
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS117269384
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Methylmalonic aciduria
Health Risk
RS140881518
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS142070439
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Inborn genetic diseases
Health Risk
RS142447736
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Methylmalonic aciduria
Health Risk
RS146668962
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS147457956
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Inborn genetic diseases
Health Risk
RS147637814
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS186864802
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS1884100386
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Methylmalonic aciduria
Health Risk
RS35648932
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, MMAB-related disorder
Health Risk
RS370773720
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblB type, Methylmalonic aciduria
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111678627 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS117269384 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS140881518 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS142070439 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Inborn genetic diseases |
| RS142447736 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS146668962 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS147457956 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Inborn genetic diseases |
| RS147637814 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS186864802 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS1884100386 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS35648932 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS370773720 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS372195202 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS374802787 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Inborn genetic diseases |
| RS545625368 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Malignant tumor of esophagus |
| RS549807022 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS61739388 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Inborn genetic diseases |
| RS749127574 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS749936057 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS750655720 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS752866643 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS754357121 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, MMAB-related disorder |
| RS756195708 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic acidemia |
| RS765547005 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS769385276 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS771053425 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS771725706 | Health Risk | Conflicting classifications of pathogenicity | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1351673148 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1555274484 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1555274493 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1555274497 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1555275604 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1555276160 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1592996077 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1592998207 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1593008134 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS1884198492 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2084305079 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2136198139 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2136199436 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2136199734 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548602308 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548603971 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548604098 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548614097 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548614137 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS2548614401 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS368584846 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |
| RS376128990 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Inborn genetic diseases |
| RS376611965 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblB type, Methylmalonic aciduria |