Recombinant Human MMADHC Protein, MYC/DDK-tagged

• Cat.No.: MMADHC-570H
• Product Overview: Recombinant Human MMADHC fused with MYC/DDK tag at C-terminal was expressed in HEK293.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• Description: 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.
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 32.8 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

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