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Search results for 'Disease mutation'

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    GTPBP3 Antibody - middle region (ARP96867_P050)

    Protein Name:This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described.
    Catalog #:ARP96867_P050
    Type: pAb
    Reacts with: Human
    Application: WB
    Product Size: 100 ul
    Price (USD): $289.00
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    SERPINA10 Antibody - N-terminal region (ARP96824_P050)

    Protein Name:The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.
    Catalog #:ARP96824_P050
    Type: pAb
    Reacts with: Human
    Application: WB
    Product Size: 100 ul
    Price (USD): $289.00
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    AP5Z1 Antibody - middle region (ARP96826_P050)

    Protein Name:This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862).
    Catalog #:ARP96826_P050
    Type: pAb
    Reacts with: Human
    Application: WB
    Product Size: 100 ul
    Price (USD): $289.00
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    ADAMTS2 Antibody - middle region (ARP96801_P050)

    Protein Name:This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.
    Catalog #:ARP96801_P050
    Type: pAb
    Reacts with: Human
    Application: WB
    Product Size: 100 ul
    Price (USD): $289.00
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