MMADHC

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial also known as MMADHC is a protein that in humans is encoded by the MMADHC gene.^[5]

MMADHC
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5CUZ, 5CV0
Identifiers
Aliases	MMADHC, C2orf25, CL25022, cblD, methylmalonic aciduria and homocystinuria, cblD type, metabolism of cobalamin associated D
External IDs	OMIM: 611935; MGI: 1923786; HomoloGene: 9248; GeneCards: MMADHC; OMA:MMADHC - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q23.2 Start 149,569,637 bp[1] End 149,587,778 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C1.1 Start 50,169,893 bp[2] End 50,186,813 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in palpebral conjunctiva epithelium of nasopharynx amniotic fluid Skeletal muscle tissue of rectus abdominis biceps brachii vastus lateralis muscle parotid gland Skeletal muscle tissue of biceps brachii parietal pleura oral cavity Top expressed in interventricular septum temporal muscle digastric muscle seminiferous tubule sternocleidomastoid muscle soleus muscle vastus lateralis muscle extraocular muscle spermatid triceps brachii muscle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytosol mitochondrion cytoplasm Biological process cobalamin metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27249 109129 Ensembl ENSG00000168288 ENSMUSG00000026766 UniProt Q9H3L0 Q99LS1 RefSeq (mRNA) NM_015702 NM_133839 NM_001348198 NM_001348199 NM_001348200 RefSeq (protein) NP_056517 NP_598600 NP_001335127 NP_001335128 NP_001335129 Location (UCSC) Chr 2: 149.57 – 149.59 Mb Chr 2: 50.17 – 50.19 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a protein localized in cytosol and mitochondria that is involved in an early step of vitamin B₁₂ metabolism. Vitamin B₁₂ (cobalamin) is essential for normal development and survival in humans.^[6]

Clinical significance

Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin.^[5]