| Gene Symbol |
MMACHC
|
| Entrez Gene |
25974
|
| Alt Symbol |
cblC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
| Other Description |
methylmalonic aciduria and homocystinuria type C protein
|
| Swissprots |
Q9BRQ7 Q5T157 Q9Y4U1
|
| Accessions |
EAX06983 Q9Y4U1 AK098537 AL080062 CAB45693 BC006122 AAH06122 BM980565 BU632364 BU839693 JF432592 ADZ15809 XM_005270724 XP_005270781 XM_011541204 XP_011539506 NM_015506 NP_056321
|
| Function |
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:23270877}.
|
| Tissue Specificity |
Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269|PubMed:16311595}.
|
| Top Pathways |
Vitamin digestion and absorption
|