Rabbit anti-Human MMADHC Polyclonal Antibody | anti-MMADHC antibody

MMADHC, CT (MMADHC, C2orf25, CL25022, Methylmalonic aciduria and homocystinuria type D protein, mitochondrial) (Biotin)

Cat. Num. AAA6321253

• Gene Names: MMADHC; cblD; C2orf25; CL25022
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: MMADHC; Polyclonal Antibody; CT (MMADHC; C2orf25; CL25022; Methylmalonic aciduria and homocystinuria type D protein; mitochondrial) (Biotin); mitochondrial; anti-MMADHC antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-MMADHC antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: MMADHC antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 225-253 amino acids from the C-terminal region of human MMADHC.
• Conjugate: Biotin
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(MMADHC Antibody (C-term) western blot analysis in T47D cell line lysates (35ug/lane).This demonstrates the MMADHC antibody detected the MMADHC protein (arrow).)

Related Product Information for anti-MMADHC antibody

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.

Product Categories/Family for anti-MMADHC antibody

Antibodies; Mitochondrial Proteins

References

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010). Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009). Coelho, D., et al. N. Engl. J. Med. 358(14):1454-1464(2008).

NCBI and Uniprot Product Information

• NCBI GI #: 7661548
• NCBI GeneID: 27249
• NCBI Accession #: NP_056517.1
• NCBI GenBank Nucleotide #: NM_015702.2
• UniProt Accession #: Q9H3L0; O95891; B2R895; D3DP91
• Molecular Weight: 32,940 Da
• NCBI Official Full Name: methylmalonic aciduria and homocystinuria type D protein, mitochondrial
• NCBI Official 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 Synonym Gene Names: C2orf25; CL25022

NCBI 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.[provided by RefSeq, Nov 2008]

Uniprot Description

Involved in cobalamin metabolism (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis of two coenzymes, methylcobalamin and adenosylcobalamin (PubMed:18385497, PubMed:24722857). Plays a role in regulating the proportion of methylcobalamin and adenosylcobalamin (PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851).