Product Overview
Description
CEP41 (centrosomal protein of 41 kDa) is the protein product of the testis-specific gene A14 (TSGA14). TSGA14 was originally identified as a gene adjacent to the imprinted gene MEST. Studies of TSGA14 revealed that unlike MEST, TSGA14 is not an imprinted gene. CEP41 was also identified as a true centrosomal protein in a mass-spectometry-based proteomic analysis of human centrosomes.
Applications
Antibody Competition
Nature
Recombinant Protein
Sequence
HIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGLKVLAQKFPEGLITGSLP
Predicted Molecular Weight
27 kDa
Target Information
Alternative Names
Centrosomal protein 41 kDa; Centrosomal protein of 41 kDa; CEP41; DKFZp762H1311; testis specific protein A14; testis specific, 14; Testis-specific gene A14 protein
Protein Function
Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium.
Involvement in Disease
Joubert syndrome 15 (JBTS15): 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. The disease is caused by variants affecting the gene represented in this entry. Genetic variations in CEP41 may be associated with susceptibility to autism.
Shipping & Handling
Shipping
Shipped on dry ice.
Constituents
PBS and 1M Urea, pH 7.4.
