The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/2000 - 1/10000. Detects a band of approximately 41 kDa (predicted molecular weight: 41 kDa).
Use at 2-5 µg/mg of lysate.
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.
Detection of Human TSGA14 by Immunoprecipitation, using ab86180 at 3µg/mg lysate. Image shows immunoprecipitated TSGA14 detected with post IP WB, loading 20% of IP and using HeLa whole cell lysate at 1mg. Detection: Chemiluminescence with an exposure time of 30 seconds.