Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% Glycerol

Gene Details

Species

Human

Gene Symbol

MMACHC

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Gene ID

25974

Gene Synonyms

cblC

ORF Size

678 bp

RefSeq#

BC006122

Gene Description

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.

UniGene ID

Hs.13024

HGNC ID

HGNC:24525