• Gene id: 27249

Gene Summary

• Gene Symbol: MMADHC   Gene   UCSC   Ensembl
• Aliases: C2orf25, CL25022, cblD
• Gene name: metabolism of cobalamin associated D
• Alternate names: methylmalonic aciduria and homocystinuria type D protein, mitochondrial, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, protein C2orf25, mitochondrial,
• Gene location: 2q23.2 (149587774: 149569636)     Exons: 8     NC_000002.12
• Gene summary(Entrez): This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinur
• OMIM: 611935

Protein Summary

• Protein general information: Q9H3L0  
  • Name: Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (CblD)
  • Length: 296  
  • Mass: 32940
  • Tissue specificity: Widely expressed at high levels. {ECO
• Sequence:

  MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQRFQLP
  GNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAI
  QTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFI
  DPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN

• Structural information:
  • Interpro: IPR019362  
  • PDB: 5CUZ 5CV0
  • PDBsum: 5CUZ 5CV0
  • STRING: ENSP00000389060
• Other Databases: GeneCards:  MMADHC  Malacards:  MMADHC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0009235	cobalamin metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009235	cobalamin metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Methylmalonic aciduria and homocystinuria	KEGG:H02221
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881