Mouse tetratricopeptide repeat domain 21B ELISA Kit | TTC21B elisa kit
Mouse Tetratricopeptide repeat protein 21B, TTC21B ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
TTC21B: May negatively modulate SHH signal transduction and may play a role in retrograde intraflagellar transport in cilia. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B is causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. TTC21B mutations interact in trans with mutations in other ciliopathy-causing genes and contribute to disease manifestation and severity. Defects in TTC21B are the cause of nephronophthisis type 12 (NPHP12). NPHP12 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects. Defects in TTC21B are the cause of asphyxiating thoracic dystrophy type 4 (ATD4). ATD4 is an autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Defects in TTC21B may be a cause of Bardet-Biedl syndrome (BBS). A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Defects in TTC21B may be a cause of Joubert syndrome (JBTS). A 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 and renal disease. Belongs to the TTC21 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Cellular Component: cell projection; cytoskeleton; cell; cytoplasm; nuclear chromatin; intracellular; cilium
Biological Process: regulation of transcription from RNA polymerase II promoter; smoothened signaling pathway; ventricular system development; forebrain dorsal/ventral pattern formation; regulation of smoothened signaling pathway
Research Articles on TTC21B
Similar Products
Product Notes
The Mouse TTC21B ttc21b (Catalog #AAA9323355) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9323355 ELISA Kit recognizes Mouse TTC21B. It is sometimes possible for the material contained within the vial of "tetratricopeptide repeat domain 21B, 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.
