NDUFAF2 Antibody, Biotin conjugated

Code CSB-PA836643LD01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NDUFAF2 Polyclonal antibody
Uniprot No.
Target Names
NDUFAF2
Alternative Names
B17.2 like antibody; B17.2-like antibody; B17.2L antibody; FLJ22398 antibody; MIMIT_HUMAN antibody; Mimitin antibody; Mimitin mitochondrial antibody; mitochondrial antibody; MMTN antibody; Myc induced mitochondrial protein antibody; Myc-induced mitochondrial protein antibody; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 2 antibody; NADH dehydrogenase (ubiquinone) complex I; assembly factor 2 antibody; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 antibody; NDUFA12 like antibody; NDUFA12 like protein antibody; NDUFA12-like protein antibody; NDUFA12L antibody; NDUFAF2 antibody; OTTHUMP00000161882 antibody; OTTHUMP00000221703 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 protein (117-169AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Acts as a molecular chaperone for mitochondrial complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Gene References into Functions
  1. One patient presented with Leigh syndrome and had a homozygous deletion in the NDUFAF2 gene, while the second patient had a homozygous mutation in the POLG gene, [c.1399G>A; p.Ala467Thr]. PMID: 27344355
  2. Mimitin and 14-3-3 protein zeta/delta are potential markers of paclitaxel resistance and prognostic factors in ovarian cancer. PMID: 26033570
  3. Within the clinical spectrum of Leigh disease, patients with mutations in NDUFAF2 present with a distinct clinical pattern with predominantly brainstem involvement on MRI PMID: 20571988
  4. the novel gene mimitin is a direct transcriptional target of c-Myc, and is involved in Myc-dependent cell proliferation in esophageal squamous cell carcinoma cells PMID: 15774466
  5. B17.2L occurred in a 830 kDa subcomplex specifically in patients with mutations in subunits NDUFV1 and NDUFS4 PMID: 17383918
  6. the homozygous substitution in NDUFAF2 is the disease-causing mutation, which results in a complex I deficiency in the fibroblasts PMID: 19384974

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Involvement in disease
Mitochondrial complex I deficiency (MT-C1D); Leigh syndrome (LS)
Subcellular Location
Mitochondrion.
Protein Families
Complex I NDUFA12 subunit family
Tissue Specificity
Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts.
Database Links

HGNC: 28086

OMIM: 252010

KEGG: hsa:91942

STRING: 9606.ENSP00000296597

UniGene: Hs.591757

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