Cell Biology Antibodies 6

Anti-MMADHC Antibody (CAB15820)

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SKU:
CAB15820
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-MMADHC Antibody
Antibody SKU:CAB15820
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-296 of human MMADHC (NP_056517.1).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:293T, NIH/3T3, HeLa, MCF7
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 1-296 of human MMADHC (NP_056517.1).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:MANV LCNR ARLV SYLP GFCS LVKR VVNP KAFS TAGS SGSD ESHV AAAP PDIC SRTV WPDE TMGP FGPQ DQRF QLPG NIGF DCHL NGTA SQKK SLVH KTLP DVLA EPLS SERH EFVM AQYV NEFQ GNDA PVEQ EINS AETY FESA RVEC AIQT CPEL LRKD FESL FPEV ANGK LMIL TVTQ KTKN DMTV WSEE VEIE REVL LEKF INGA KEIC YALR AEGY WADF IDPS SGLA FFGP YTNN TLFE TDER YRHL GFSV DDLG CCKV IRHS LWGT HVVV GSIF TNAT PDSH IMKK LSGN
Gene ID:27249
Uniprot:Q9H3L0
Cellular Location:Cytoplasm, Mitochondrion
Calculated MW:32kDa
Observed MW:33kDa
Synonyms:MMADHC, C2orf25, CL25022, cblD, cblD type
Background: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.
UniProt Protein Function: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).
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 2q23.2

Cellular Component: cytosol

Biological Process: cobalamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type

NCBI Summary: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 Code:Q9H3L0
NCBI GenInfo Identifier:68565296
NCBI Gene ID:27249
NCBI Accession:Q9H3L0.2
UniProt Secondary Accession:Q9H3L0,O95891, B2R895, D3DP91,
UniProt Related Accession:Q9H3L0
Molecular Weight:32,940 Da
NCBI Full Name:Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
NCBI 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 Entry Name:MMAD_HUMAN
Anti-MMADHC Antibody (CAB15820)Western blot analysis of extracts of various cell lines, using MMADHC antibody (CAB15820) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 10s.
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