human MMADHC Over-expression AAV
This is an AAV expressing Human MMADHC.
AAV-215552
AAV-h-MMADHC
Ready-to-use AAV expressing Human MMADHC (methylmalonic aciduria and homocystinuria, cblD type). Available with optional GFP reporter or cell-specific promoter.
Gene Reference Data
Alternate Names
C2orf25; cblD; CL25022
Description (Vector)
MMADHC 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.
Gene ID
27249
Gene Name (Vector)
methylmalonic aciduria and homocystinuria, cblD type
Gene Symbol
MMADHC
HGNC ID
HGNC:25221
ORF Size (aa)
891
ORF Size (bp)
891 bp
RefSeq ID
NM_015702
RefSeq Synonyms
NM_015702, BC023995, BC022859, BC010894, BC000932,
Species
human
UniGene ID
Hs.5324
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About Storage Conditions
All our viral products should be kept at -80°C. At this temperature, the virus will remain stable for 6-12 months (and in some cases, up to 2 years). Once thawed, the product can be stored at 4°C for 2-3 weeks without significant loss of biological activity.
We recommend aliquoting your vectors into low protein binding tubes upon receipt. This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube.