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

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: 39-296 a.a.
• 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.
• 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 Information

• 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