MAK ist ein Gen, das durch das Symbol MAK kodiert wird. Es ist auch bekannt als Serine/threonine-protein kinase Male germ cell-associated kinase. MAK hat eine Masse von 70.58kDa, eine Aminosäurelänge von 623, und ist an Retinitis pigmentosa 62 beteiligt.
Wir bieten 7 antikörper gegen MAK, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.
Entrez Zusammenfassung
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants.
Gewebespezifität
Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed in rod and cone photoreceptors.
Rolle bei Krankheiten
Retinitis pigmentosa 62: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Sequenzähnlichkeiten
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Posttranslationale Modifikation
Autophosphorylated. Phosphorylated on serine and threonine residues.
Zellort
Nucleus. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome. Cytoplasm > Cytoskeleton > Spindle. Midbody. Cell projection > Cilium > Photoreceptor outer segment. Photoreceptor inner segment.
Localized in both the connecting cilia and the outer segment axonemes (By similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during metaphase and anaphase, and also to midbody at anaphase until telophase.
