human MMACHC Over-expression AAV

Cat. No: AAV-215551

Availability: 3-5 weeks

Name: AAV-h-MMACHC

This is an AAV expressing Human MMACHC.

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Viral Backbone: Recombinant AAV
AAV-ITR: AAV2
AAV Serotype: Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids
Promoter: CMV (default), or choose from 30 different ubiquitous or cell specific promoter
Reporter: none, optional GFP, CFP, YFP, RFP or mCherry
Storage Buffer: PBS/5% Glycerol

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