MMAA Chromosome 4
Metabolism of cobalamin associated A
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What This Gene Does
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Associated Conditions (10)
Methylmalonic aciduria
cblA type
Microcephaly
Severe global developmental delay
Cataract
Inborn genetic diseases
MMAA-related disorder
See cases
Methylmalonic acidemia
Methylmalonic aciduria of the cblA complementation type
Key Variants
RS112882351
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
RS1328584680
Conflicting classifications of pathogenicity
Microcephaly, Severe global developmental delay, Cataract
Health Risk
RS138947726
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
RS146372922
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
RS148404005
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Inborn genetic diseases
Health Risk
RS148424051
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
RS150692463
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, MMAA-related disorder
Health Risk
RS199749473
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
RS199809221
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2126629821
Conflicting classifications of pathogenicity
See cases, Methylmalonic aciduria, cblA type
Health Risk
RS371714495
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Inborn genetic diseases
Health Risk
RS371769807
Conflicting classifications of pathogenicity
Methylmalonic aciduria, cblA type, Methylmalonic aciduria
Health Risk
All Variants (142)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2546339600 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546342886 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546342956 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546342963 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546344787 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546344807 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546344966 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546345800 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546345815 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546345991 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS751717131 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS774958165 | Health Risk | Likely pathogenic | — |
| RS775224246 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS864309729 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS864309730 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic acidemia |
| RS869320656 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS941689476 | Health Risk | Likely pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1029096863 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic acidemia |
| RS104893846 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic acidemia |
| RS104893849 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1219472164 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1240340814 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1311110494 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1314623572 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1340736923 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS140356252 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic acidemia |
| RS1553957906 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553957907 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958126 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958127 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958143 | Health Risk | Pathogenic | — |
| RS1553958158 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958159 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958392 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553958417 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553959024 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553959025 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553959113 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1553959152 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1560795828 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1727720677 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1727810406 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1727922828 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1727923462 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1728076151 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS1728203978 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2126617138 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2126619930 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2126627182 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |
| RS2546335307 | Health Risk | Pathogenic | Methylmalonic aciduria, cblA type, Methylmalonic aciduria |