MMADHC
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Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria -
Overview
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 homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X. -
Synonyms
MMADHC;methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria;C2orf25, chromosome 2 open reading frame 25;methylmalonic aciduria and homocystinuria type D protein, mitochondrial;cblD;CL25022;protein C2orf25, mitochondrial;C2o
Recombinant Proteins
- Human
- Zebrafish
- Chicken
- Rhesus macaque
- Rat
- Mouse
- E.coli
- Mammalian Cells
- HEK293
- GST
- His
- Myc&DDK
- Non
- His&Fc&Avi
Involved Pathway
MMADHC involved in several pathways and played different roles in them. We selected most pathways MMADHC participated on our site, such as Cobalamin (Cbl, vitamin B12) transport and metabolism,Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD,Defects in cobalamin (B12) metabolism, which may be useful for your reference. Also, other proteins which involved in the same pathway with MMADHC were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Cobalamin (Cbl, vitamin B12) transport and metabolism | CD320,CTRC,MMAA,CTRB1,ELA2L,TCN1,LOC100686744,ELA2,CBLC-1,MTRR |
| Diseases of metabolism | CYP11A1,GYG2,EPM2A,SFTPC,GYG1,CCDC59,FDX1L,SFTPB,AMN,MMAA |
| Metabolism of vitamins and cofactors | CD320,GSTO2,PDZD11,SLC25A16,GPHNA,TCN1,CTRB1,CBLC-1,LOC100686744,SLC5A6A |
| Defects in vitamin and cofactor metabolism | AMN,MMAA,MTRR |
| Metabolism | CYP24A1,APOEB,MPC1,CYP3A5,NUDT3B,CIAO1,GNG13B,COX6C,FAAH2B,NDUFAF2 |
| Disease | KREMEN1,NPM1,RBP1,AP1G1,KPNA3,TH1L,CPSF4,CTDP1,FKBP1A,PSIP1 |
| Defects in cobalamin (B12) metabolism | MTRR,AMN,MMAA |
Protein Function
MMADHC has several biochemical functions, for example, . Some of the functions are cooperated with other proteins, some of the functions could acted by MMADHC itself. We selected most functions MMADHC had, and list some proteins which have the same functions with MMADHC. You can find most of the proteins on our site.
| Function | Related Protein |
|---|
Interacting Protein
MMADHC has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with MMADHC here. Most of them are supplied by our site. Hope this information will be useful for your research of MMADHC.
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