Guinea Pig Centrosomal protein of 41 kDa (TSGA14) ELISA Kit | CEP41 elisa kit
Guinea pig Centrosomal protein of 41 kDa (TSGA14) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Uniprot Description
TSGA14: 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. Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15). 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. Genetic variations in CEP41 may be associated with susceptibility to autism. Belongs to the CEP41 family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 7q32
Cellular Component: centriole; centrosome; membrane; cytosol
Molecular Function: protein binding
Biological Process: protein polyglutamylation; protein transport; organelle organization and biogenesis; cilium biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycle
Disease: Joubert Syndrome 15; Joubert Syndrome 1
Research Articles on CEP41
Similar Products
Product Notes
The Guinea Pig CEP41 cep41 (Catalog #AAA7212118) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7212118 ELISA Kit recognizes Guinea Pig CEP41. It is sometimes possible for the material contained within the vial of "Centrosomal protein of 41 kDa (TSGA14), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
