The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
centrosomal protein 41 kDa
Centrosomal protein of 41 kDa
testis specific 14
testis specific gene A14
Testis specific gene A14 protein
testis specific protein A14
Testis-specific gene A14 protein
Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
Isoform 1 and isoform 4 are expressed in testis and fetal tissues.
Involvement in disease
Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15) [MIM:614464]. JBTS15 is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. Note=Genetic variations in CEP41 may be associated with susceptibility to autism.
Belongs to the CEP41 family. Contains 1 rhodanese domain.
Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (PubMed:22246503).
Cytoplasm > cytoskeleton > centrosome. Cell projection > cilium. Cytoplasm > cytoskeleton > cilium basal body. Localizes mainly to the cilium basal body and in primary cilia.