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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MMADHC
metabolism of cobalamin associated D
Chromosome 2 · 2q23.2
NCBI Gene: 27249Ensembl: ENSG00000168288.14HGNC: HGNC:25221UniProt: Q9H3L0
37PubMed Papers
23Diseases
0Drugs
70Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cobalamin metabolic processprotein bindingmolecular carrier activitymitochondrionmethylmalonic aciduria and homocystinuria type cblDMethylmalonic acidemia with homocystinuria, type cblDMethylmalonic acidemia with homocystinuriamethylmalonic aciduria and/or homocystinuria, cblD type
✦AI Summary

MMADHC (metabolism of cobalamin associated D) is a cytoplasmic and mitochondrial protein essential for vitamin B₁₂ (cobalamin) metabolism and trafficking 1. It functions as a branch point protein that regulates the biosynthesis and proportions of two critical cobalamins: methylcobalamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) 2. MMADHC promotes oxidation of cobalamin bound to MMACHC and exploits cobalt-sulfur coordination chemistry at residues Cys-261 and Cys-262 to facilitate cofactor transfer to methionine synthase 3. Within the cytoplasm, MMADHC operates as part of a multiprotein complex with MMACHC, methionine synthase, and methionine synthase reductase that safely shuttles cobalamin to target enzymes 4. Pathogenic variants in MMADHC cause inherited cobalamin metabolism disorders (cblD type), presenting variable phenotypes including isolated or combined methylmalonic aciduria (MMA) and homocystinuria 1. Clinical MMADHC variants impair cofactor binding and off-loading, explaining the molecular basis of associated homocystinuria 3. These disorders are characterized by elevated methylmalonic acid and homocysteine, with disease severity correlating to the specific biochemical phenotype.

Sources cited
1
MMADHC cooperates with MMACHC to modify and target cytosolic cobalamin to client enzymes MTR and MMUT
PMID: 36680553
2
MMADHC is both mitochondrial and cytoplasmic, functioning as a branch point for vitamin B₁₂ delivery
PMID: 23270877
3
MMADHC uses Cys-261 and Cys-262 for cobalamin binding and transfer to methionine synthase; clinical variants impair this mechanism
PMID: 37546824
4
Processing of cobalamin in cytoplasm occurs in a multiprotein complex of MMACHC, MMADHC, methionine synthase, and methionine synthase reductase
PMID: 27771510
5
MMADHC gene variants cause combined methylmalonic aciduria and homocystinuria in diverse forms
PMID: 40355523
Disease Associationsⓘ23
methylmalonic aciduria and homocystinuria type cblDOpen Targets
0.82Strong
Methylmalonic acidemia with homocystinuria, type cblDOpen Targets
0.80Strong
Methylmalonic acidemia with homocystinuriaOpen Targets
0.79Strong
methylmalonic aciduria and/or homocystinuria, cblD typeOpen Targets
0.62Moderate
vitamin B12-responsive methylmalonic acidemia, type cblDv2Open Targets
0.55Moderate
Methylmalonic acidemia with homocystinuria, type cblCOpen Targets
0.50Moderate
methylmalonic aciduria and homocystinuria type cblCOpen Targets
0.50Moderate
homocystinuria-megaloblastic anemia cblD typeOpen Targets
0.45Moderate
isolated methylmalonic aciduria cblD typeOpen Targets
0.45Moderate
inborn disorder of cobalamin metabolism and transportOpen Targets
0.37Weak
methylcobalamin deficiency type cblDv1Open Targets
0.37Weak
self-injurious ideationOpen Targets
0.30Weak
placental retentionOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.20Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
disorders of vitamin D metabolismOpen Targets
0.19Weak
response to selective serotonin reuptake inhibitorOpen Targets
0.18Weak
brain aneurysmOpen Targets
0.17Weak
type 1 diabetes nephropathyOpen Targets
0.17Weak
Homocystinuria-megaloblastic anemia, cblD typeUniProt
Methylmalonic aciduria and homocystinuria, cblD typeUniProt
Methylmalonic aciduria, cblD typeUniProt
Pathogenic Variants70
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)Pathogenic
Homocystinuria-megaloblastic anemia cblD type|See cases|Cobalamin C disease|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2026→ Residue 249
NM_015702.3(MMADHC):c.10-1G>APathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 182
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 140
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)Pathogenic
Homocystinuria-megaloblastic anemia cblD type|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 259
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 219
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 188
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 242
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)Pathogenic
Cobalamin C disease|not provided|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 216
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|not provided
★★☆☆2025→ Residue 250
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)Pathogenic
not provided|Methylmalonic aciduria and homocystinuria type cblD|Cobalamin C disease
★★☆☆2025→ Residue 158
NM_015702.3(MMADHC):c.154+1G>APathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)Likely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2025→ Residue 252
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD|Isolated methylmalonic aciduria cblD type
★★☆☆2024→ Residue 19
NM_015702.3(MMADHC):c.372+1G>ALikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024
NM_015702.3(MMADHC):c.128_129del (p.His43fs)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024→ Residue 43
NM_015702.3(MMADHC):c.610-1G>ALikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)Pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2024→ Residue 68
NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)Pathogenic
not provided|Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2023→ Residue 228
NM_015702.3(MMADHC):c.10-1G>CLikely pathogenic
Methylmalonic aciduria and homocystinuria type cblD
★★☆☆2023
View on ClinVar ↗
Related Genes
MTHFRProtein interaction98%MMAAProtein interaction97%MMABProtein interaction87%CD320Protein interaction79%PSMA1Protein interaction74%LMBRD1Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Liver
80%
Bone Marrow
61%
Brain
57%
Lung
53%
Ovary
42%
Gene Interaction Network
Click a node to explore
MMADHCMTHFRMMAAMMABCD320PSMA1LMBRD1
PROTEIN STRUCTURE
Preparing viewer…
PDB5CV0 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.45–0.99]
RankingsWhere MMADHC stands among ~20K protein-coding genes
  • #10,653of 20,598
    Most Researched37
  • #1,044of 5,498
    Most Pathogenic Variants70 · top quartile
  • #9,444of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedMMADHC
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 20301409
1.00
2
The complex machinery of human cobalamin metabolism.
PMID: 36680553
J Inherit Metab Dis · 2023
0.90
3
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.
PMID: 21071249
Mol Genet Metab · 2011
0.80
4
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
PMID: 23270877
Mol Genet Metab · 2013
0.70
5
PMID: 20301503
0.60