MMADHC
entrez
27249
canonical
uniprot
Q9H3L0
canonical
ensembl
ENSG00000168288
resolver
ensp
ENSP00000301920
resolver
ensp
ENSP00000389060
resolver
ensp
ENSP00000564051
resolver
ensp
ENSP00000564054
resolver
ensp
ENSP00000564055
resolver
ensp
ENSP00000564056
resolver
ensp
ENSP00000619411
resolver
enst
ENST00000303319
resolver
enst
ENST00000428879
resolver
enst
ENST00000893992
resolver
enst
ENST00000893995
resolver
enst
ENST00000893996
resolver
enst
ENST00000893997
resolver
enst
ENST00000949352
resolver
genesymbol
MMADHC
resolver
genesymbol_syn
C2orf25
resolver
genesymbol_syn
CL25022
resolver
hgnc
HGNC:25221
resolver
uniprot
B2R895
resolver
uniprot
D3DP91
resolver
uniprot
O95891
resolver
uniprot_entry
MMAD_HUMAN
resolver
uniprot_sec
B2R895
resolver
uniprot_sec
D3DP91
resolver
uniprot_sec
O95891
resolver
amino_acid_sequence
MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria and homocystinuria, cblD type (MAHCD) [MIM:277410]: An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, and megaloblastic anemia. Laboratory studies show methylmalonic aciduria and homocystinuria. {ECO:0000269|PubMed:18385497}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Homocystinuria-megaloblastic anemia, cblD type (HMAD) [MIM:620952]: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. HMAD appears in infancy or early childhood and is characterized by delayed psychomotor development, dystonia or spastic ataxia, poor speech, megaloblastic anemia, homocystinuria, and hypomethioninemia. Additional features may include nystagmus, poor eye contact, hypotonia, and seizures. Brain imaging shows cerebral or cerebellar atrophy. {ECO:0000269|PubMed:18385497, ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Methylmalonic aciduria, cblD type (MACD) [MIM:620953]: A form of methylmalonic aciduria, an inborn error of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. MACD is an autosomal recessive form characterized by severe clinical features including respiratory distress syndrome, intracranial hemorrhage, seizures, and ketotic coma. Laboratory studies show isolated methylmalonic aciduria without homocystinuria. {ECO:0000269|PubMed:18385497}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:27771510). {ECO:0000269|PubMed:18385497, ECO:0000269|PubMed:23415655, ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26364851, ECO:0000269|PubMed:27771510}.
uniprot
proteins
mass_dalton
32940
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="F->A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 186; /note="M->A: Decreases methylcobalamin levels. No effect on interaction with MMACHC."; /evidence="ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544"; MUTAGEN 189; /note="W->A: Decreases methylcobalamin levels. Impairs interaction with MMACHC."; /evidence="ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544"; MUTAGEN 197; /note="R->A: Decreases methylcobalamin levels, but increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 204; /note="F->A: Decreases methylcobalamin levels and mildly increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 212; /note="C->A: No effect on cobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 226; /note="D->A: Decreases methylcobalamin levels, but increases adenosylcobalamin levels. No effect on interaction with MMACHC."; /evidence="ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544"; MUTAGEN 237; /note="Y->A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 266; /note="R->A: Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 270; /note="W->A: Decreases methylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 278; /note="S->A: Marginally decreases methylcobalamin levels and strongly increases adenosylcobalamin levels."; /evidence="ECO:0000269|PubMed:24722857"; MUTAGEN 280; /note="F->A: No effect on cobalamin levels."; /evidence="ECO:0000269|PubMed:24722857
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18385497
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21071249
uniprot
proteins
pubmed
23270877
uniprot
proteins
pubmed
23415655
uniprot
proteins
pubmed
24722857
uniprot
proteins
pubmed
26364851
uniprot
proteins
pubmed
26483544
uniprot
proteins
pubmed
27771510
uniprot
proteins
sequence_length
296
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23270877}. Mitochondrion {ECO:0000269|PubMed:23270877}.
uniprot
proteins