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Rabbit Anti-MTMR14 Antibody (CSB-PA847682ESR1HU)
Supplier: CUSABIO BIOTECH CO.
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1 Antibody,NS5ATP4ABP1 Antibody,hJumpy Antibody,MTMR14 Antibody,C3orf29 AntibodyMore alternative names for the antibody
C3orf29 antibody|NS5ATP4ABP1 antibody
Anti-MTMR14 antibody (ab102575)
Anti-MTMR14 antibody (ab102575)
Recommended applications: ELISA, IHC
Recommended dilution: Recommended dilution:IHC:1:20-1:200
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human Myotubularin-related protein 14 protein (1-280AA)
|Recommended dilution|| |
|Molecular weight|| |
Antigen Affinity Purified
Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.
|Database links|| |
<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64419" target="_blank">Entrez Gene:64419( Human)</a>, <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=97287" target="_blank">Entrez Gene:97287( Mouse)</a>, <a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=312634" target="_blank">Entrez Gene:312634( Rat)</a>, <a href="http://www.ncbi.nlm.nih.gov/omim/611089" target="_blank">Omim:611089( Human)</a>, <a href="http://www.uniprot.org/uniprot/Q8NCE2" target="_blank">SwissProt:Q8NCE2( Human)</a>, <a href="http://www.uniprot.org/uniprot/Q8VEL2" target="_blank">SwissProt:Q8VEL2( Mouse)</a>, <a href="http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=475382" target="_blank">Unigene:475382( Human)</a>, <a href="http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=197816" target="_blank">Unigene:197816( Mouse)</a>
|Protein function|| |
Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. .
|Protein tissue specificity|| |
Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. .
|Involvement in disease|| |
Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. . Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). .
|Protein sequence and domain|| |
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
|Protein cellular localization|| |
Cytoplasm . Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
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CUSABIO BIOTECH CO.
|Product type|| |
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