catalog number :
MBS9328058
products type :
ELISA Kit
products full name :
Human Methylmalonic aciduria and homocystinuria type C protein, MMACHC ELISA Kit
products short name :
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
products name syn :
Human Methylmalonic aciduria and homocystinuria type C protein (MMACHC) ELISA kit; DKFZp564I122; FLJ25671; RP11-291L19.3; cblC; OTTHUMP00000009243; methylmalonic aciduria and homocystinuria type C protein; methylmalonic aciduria (cobalamin deficiency) cblC type; with homocystinuria
other names :
methylmalonic aciduria and homocystinuria type C protein; Methylmalonic aciduria and homocystinuria type C protein; methylmalonic aciduria and homocystinuria type C protein; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
products gene name :
MMACHC
other gene names :
MMACHC; MMACHC; cblC
uniprot entry name :
MMAC_HUMAN
ncbi acc num :
NP_056321.2
ncbi gb acc num :
NM_015506.2
ncbi mol weight :
31,728 Da
ncbi pathways :
Cobalamin (Cbl, Vitamin B12) Transport And Metabolism Pathway 833804!!Defective AMN Causes Hereditary Megaloblastic Anemia 1 Pathway 906000!!Defective BTD Causes Biotidinase Deficiency Pathway 906015!!Defective CD320 Causes Methylmalonic Aciduria Pathway 906012!!Defective CUBN Causes Hereditary Megaloblastic Anemia 1 Pathway 906001!!Defective GIF Causes Intrinsic Factor Deficiency Pathway 906004!!Defective HLCS Causes Multiple Carboxylase Deficiency Pathway 906014!!Defective LMBRD1 Causes Methylmalonic Aciduria And Homocystinuria Type CblF Pathway 906003!!Defective MMAA Causes Methylmalonic Aciduria Type CblA Pathway 906010!!Defective MMAB Causes Methylmalonic Aciduria Type CblB Pathway 906009
ncbi summary :
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
uniprot summary :
Function: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).