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

MMADHC Rabbit Polyclonal

Cat. Num. AAA7601461

• Gene Names: MMADHC; cblD; C2orf25; CL25022
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry, Western Blot
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: MMADHC; Polyclonal Antibody; MMADHC Rabbit Polyclonal; anti-MMADHC antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 296

• Applicable Applications for anti-MMADHC antibody: ELISA (EIA), Immunohistochemistry (IHC), Western Blot (WB)
• Immunogen: Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human skeletal muscle tissue slide using MBS7601461 (MMADHC Antibody) at dilution of 1:200)

Western Blot (WB)

(HeLa cells were subjected to SDS PAGE followed by western blot with MBS7601461 (MMADHC Antibody) at dilution of 1:600)

NCBI and Uniprot Product Information

• NCBI GI #: 7661548
• NCBI GeneID: 27249
• NCBI Accession #: NP_056517.1
• NCBI GenBank Nucleotide #: NM_015702.2
• 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
• UniProt Entry Name: MMAD_HUMAN

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

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).

Chromosomal Location of Human Ortholog: 2q23.2

Cellular Component: cytosol; mitochondrion

Biological Process: cobalamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type