ZAK ist ein Gen, das durch das Symbol MAP3K20 kodiert wird. Es ist auch bekannt als: Mitogen-activated protein kinase kinase kinase 20; Human cervical cancer suppressor gene 4 protein; HCCS-4; Leucine zipper- and sterile alpha motif-containing kinase; MLK-like mitogen-activated protein triple kinase; Mitogen-activated protein kinase kinase kinase MLT; Mixed lineage kinase-related kinase; MLK-related kinase; Sterile alpha motif- and leucine zipper-containing kinase AZK; MAP3K20; MLTK. ZAK hat eine Masse von 91.16kDa, eine Aminosäurelänge von 800, und ist an folgenden Krankheiten beteiligt: Split-foot malformation with mesoaxial polydactyly; Myopathy, centronuclear, 6, with fiber-type disproportion.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Stress-activated component of a protein kinase signal transduction cascade. Regulates the JNK and p38 pathways. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Pro-apoptotic. Role in regulation of S and G2 cell cycle checkpoint by direct phosphorylation of CHEK2 (PubMed:10924358, PubMed:11836244, PubMed:15342622, PubMed:21224381). Involved in limb development (PubMed:26755636).
Entrez Zusammenfassung
This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Gewebespezifität
Ubiquitously expressed. Isoform 2 is the predominant form in all tissues examined, except for liver, in which isoform 1 is more highly expressed.
Rolle bei Krankheiten
Split-foot malformation with mesoaxial polydactyly: An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss.
Myopathy, centronuclear, 6, with fiber-type disproportion: A form of centronuclear myopathy, 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. CNM6 is an autosomal recessive, slowly progressive form with onset in infancy or early childhood.
Sequenzähnlichkeiten
Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
Zellort
Cytoplasm. Nucleus.
Translocates to the nucleus upon ultraviolet B irradiation.
