C2ORF25 (MMADHC) (NM_015702) Human Recombinant Protein
Product Specifications
Background
This gene 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.[provided by RefSeq, Nov 2008]
Synonyms
C2orf25; cblD; CL25022
Gene ID
27249
UniProt
Q9H3L0
Accession Number mRNA
NM_015702
Chromosomal Location
2q23.2
Expression System
HEK293T
Tag
C-Myc/DDK
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Molecular Weight
32.8 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
MMADHC
Species
Human
Protein ID
NP_056517
Overview
Recombinant protein of human methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/27249
Uniprot URL
https://www.uniprot.org/uniprot/Q9H3L0
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_015702
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_056517
Curated Selection
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