Methylmalonic Acidemia(Methylmalonic aciduria)
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MCEE/84693 | methylmalonyl-CoA epimerase | 2p13.3 | Chr2, NC_000002.12 (71109687..71130229, complement) |
20543 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ABCD4/5826 | ATP binding cassette subfamily D member 4 | 14q24.3 | Chr14, NC_000014.9 (74285269..74302934, complement) |
17666 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | HCFC1/3054 | host cell factor C1 | Xq28 | ChrX, NC_000023.11 (153947557..153971818, complement) |
24262 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MMUT/4594 | methylmalonyl-CoA mutase | 6p12.3 | Chr6, NC_000006.12 (49430360..49463253, complement) |
32894 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CD320/51293 | CD320 molecule | 19p13.2 | Chr19, NC_000019.10 (8302127..8308358, complement) |
6232 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | MMAB/326625 | metabolism of cobalamin associated B | 12q24.11 | Chr12, NC_000012.12 (109553715..109573504, complement) |
19790 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | THAP11/57215 | THAP domain containing 11 | 16q22.1 | Chr16, NC_000016.10 (67842320..67844195) |
1876 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | MMAA/166785 | metabolism of cobalamin associated A | 4q31.21 | Chr4, NC_000004.12 (145619385..145660033) |
40649 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | ACSF3/197322 | acyl-CoA synthetase family member 3 | 16q24.3 | Chr16, NC_000016.10 (89093852..89156233) |
62382 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||