Description
TTC8 Antibody (PACO12975)
The TTC8 Antibody (PAC012975) is a valuable tool for researchers studying TTC8, a protein involved in cilia biogenesis and intraflagellar transport. This polyclonal antibody was raised in rabbits and is highly specific to human samples, making it ideal for use in a variety of research applications, including Western blotting and immunofluorescence.TTC8 plays a crucial role in the formation and function of cilia, which are hair-like structures found on the surface of many cell types. Defects in cilia have been linked to a range of human diseases, including ciliopathies and certain types of cancer.
By targeting TTC8 with this antibody, researchers can better understand the mechanisms underlying these conditions and develop potential therapeutic strategies.Overall, the TTC8 Antibody (PAC012975) is a valuable tool for investigating the role of TTC8 in cilia biology and its implications for human health. Its high specificity and reliability make it a valuable asset for researchers working in the fields of cell biology, genetics, and developmental biology.
| Antibody Name: | TTC8 Antibody (PACO12975) |
| Antibody SKU: | PACO12975 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, WB |
| Recommended Dilutions: | |
| Species Reactivity: | Human, Mouse, Rat |
| Immunogen: | Human TTC8 |
| Form: | Liquid |
| Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| Purification Method: | Antigen Affinity Purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
| Synonyms: | tetratricopeptide repeat domain 8;TTC8;BBS8 ; |
| UniProt Protein Function: | TTC8: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Defects in TTC8 are the cause of retinitis pigmentosa type 51 (RP51). It is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in TTC8 are the cause of Bardet-Biedl syndrome type 8 (BBS8). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder 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. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 5 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Cytoskeletal Chromosomal Location of Human Ortholog: 14q31.3 Cellular Component: centrosome; cytosol; photoreceptor connecting cilium; cilium Molecular Function:protein binding Biological Process: fat cell differentiation; axon guidance; protein transport; sensory processing; regulation of protein localization; sensory cilium biogenesis; organelle organization and biogenesis; establishment of anatomical structure orientation; multicellular organism growth; olfactory bulb development; sensory perception of smell; cilium biogenesis Disease: Bardet-biedl Syndrome 8; Retinitis Pigmentosa 51 |
| NCBI Summary: | This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
| UniProt Code: | Q8TAM2 |
| NCBI GenInfo Identifier: | 308153511 |
| NCBI Gene ID: | 123016 |
| NCBI Accession: | Q8TAM2.2 |
| UniProt Secondary Accession: | Q8TAM2,Q67B97, Q86SY0, Q86TV9, Q86U26, Q8NDH9, Q96DG8 A6NFG2, B3KWA5, |
| UniProt Related Accession: | Q8TAM2 |
| Molecular Weight: | 541 |
| NCBI Full Name: | Tetratricopeptide repeat protein 8 |
| NCBI Synonym Full Names: | tetratricopeptide repeat domain 8 |
| NCBI Official Symbol: | TTC8 |
| NCBI Official Synonym Symbols: | BBS8; RP51 |
| NCBI Protein Information: | tetratricopeptide repeat protein 8; TPR repeat protein 8; Bardet-Biedl syndrome type 8 |
| UniProt Protein Name: | Tetratricopeptide repeat protein 8 |
| UniProt Synonym Protein Names: | Bardet-Biedl syndrome 8 protein |
| UniProt Gene Name: | TTC8 |
| UniProt Entry Name: | TTC8_HUMAN |
