Human MMADHC Recombinant Protein (RPPB3982)

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SKU:
RPPB3982
Product type:
Recombinant Protein
Size:
20ug
Species:
Human
Target:
MMADHC
Synonyms:
Chromosome 2 Open Reading Frame 25
Synonyms:
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type With Homocystinuria
Synonyms:
Methylmalonic Aciduria And Homocystinuria Type D Protein Mitochondrial
Synonyms:
Protein C2orf25 Mitochondrial
Source:
Escherichia Coli
Uniprot:
Q9H3L0
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Description

Product Name:Human MMADHC Recombinant Protein
Product Code:RPPB3982
Size:20µg
Species:Human
Target:MMADHC
Synonyms:Chromosome 2 Open Reading Frame 25, Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type With Homocystinuria, Methylmalonic Aciduria And Homocystinuria Type D Protein Mitochondrial, Protein C2orf25 Mitochondrial, CL25022, C2orf25, cblD.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The MMADHC solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSSDESHVA AAPPDICSRT VWPDETMGPF GPQDQRFQLP GNIGFDCHLN GTASQKKSLV HKTLPDVLAE PLSSERHEFV MAQYVNEFQG NDAPVEQEIN SAETYFESAR VECAIQTCPE LLRKDFESLF PEVANGKLMI LTVTQKTKND MTVWSEEVEI EREVLLEKFI NGAKEICYAL RAEGYWADFI DPSSGLAFFG PYTNNTLFET DERYRHLGFS VDDLGCCKVI RHSLWGTHVV VGSIFTNATP DSHIMKKLSG N

MMADHC is a mitochondrial protein which takes part in an early step of vitamin B1 2 metabolism. Vitamin B12 (cobalamin) is vital for regular development and existence in humans. Mutations in MMADHC can result in methylmalonic aciduria and homocystinuria type cblD, a cobalamin metabolism syndrome which is characterized by decreased levels of the coenzymes methylcobalamin and adenosylcobalamin.

MMADHC Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 281 amino acids (39-296) and having a molecular mass of 31.0 kDa. MMADHC is fused to a 23 amino acid His-tag at N-terminus.

UniProt Protein Function:MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 2q23.2

Cellular Component: cytosol

Biological Process: cobalamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type

NCBI Summary: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]
UniProt Code:Q9H3L0
NCBI GenInfo Identifier:68565296
NCBI Gene ID:27249
NCBI Accession:Q9H3L0.2
UniProt Secondary Accession:Q9H3L0,O95891, B2R895, D3DP91,
UniProt Related Accession:Q9H3L0
Molecular Weight:32,940 Da
NCBI Full Name:Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
NCBI Synonym Full Names:methylmalonic aciduria and homocystinuria, cblD type
NCBI Official Symbol:MMADHC  
NCBI Official Synonym Symbols:cblD; C2orf25; CL25022  
NCBI Protein Information:methylmalonic aciduria and homocystinuria type D protein, mitochondrial
UniProt Protein Name:Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Protein Family:Methylmalonic aciduria and homocystinuria
UniProt Gene Name:MMADHC  
UniProt Entry Name:MMAD_HUMAN
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