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Recombinant Human methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, His-tagged

Cat.No.: MMADHC-432H
Product Overview: MMADHC, 39-296aa, Human, His tag, E.coli
Description: MMADHC is 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. Recombinant human MMADHC protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
Source: E.coli
Species: Human
Tag: His-tag
Form: Liquid. In 20mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT.
Molecular Mass: 31 kDa (281aa) confirmed by MALDI-TOF
AA 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
Purity: >90% by SDS - PAGE
Storage: Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
Concentration: 1 mg/ml (determined by Bradford assay)
Gene Name: MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [ Homo sapiens ]
Official Symbol: MMADHC
Synonyms: MMADHC; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; C2orf25, chromosome 2 open reading frame 25; methylmalonic aciduria and homocystinuria type D protein, mitochondrial; cblD; CL25022; protein C2orf25, mitochondrial; C2orf25;
Gene ID: 27249
mRNA Refseq: NM_015702
Protein Refseq: NP_056517
MIM: 611935
UniProt ID: Q9H3L0
Chromosome Location: 2q23

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