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BBSome
The BBSome is an octameric protein complex. It is a component of the basal body and is involved in trafficking cargos to the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. In addition the BBSome contains the BBIP10 protein. Mutation in each of this eight BBSome genes (as well as other 14 BBS genes identified to date ) causes a severe multiorganic syndrome (BBS) presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay. History The BBSome was first identified in 2007 by Peter K. Jackson and colleagues. Assembly BBSome assembly has been shown to be mediated by a complex containing a further three BBS proteins: BBS6, BBS10 Bardet–Biedl syndrome 10, also known as BBS10 is a human gene. Function The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bardet–Biedl Syndrome
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. Signs and symptoms Bardet–Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The most common clinical features are rod–cone dystrophy, with childhood-onset night-blindness followed by increasing visual loss; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; varying degrees of learning disabilities; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality. There is a wid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS1
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the ''BBS1'' gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction i .... History , research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development. References External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome External links * Further reading * * * * * * * * * * * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basal Body
A basal body (synonymous with basal granule, kinetosome, and in older cytological literature with blepharoplast) is a protein structure found at the base of a eukaryotic undulipodium (cilium or flagellum). The basal body was named by Theodor Wilhelm Engelmann in 1880 It is formed from a centriole and several additional protein structures, and is, essentially, a modified centriole. The basal body serves as a nucleation site for the growth of the axoneme microtubules. Centrioles, from which basal bodies are derived, act as anchoring sites for proteins that in turn anchor microtubules, and are known as the microtubule organizing center (MTOC). These microtubules provide structure and facilitate movement of vesicles and organelles within many eukaryotic cells. Assembly, structure Cilia and basal bodies form during quiescence or the G1 phase of the cell cycle. Before the cell enters G1 phase, i.e. before the formation of the cilium, the mother centriole serves as a component of t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Primary Cilium
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with a subtype, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core called the axoneme determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the central pair of mic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS2
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the ''BBS2'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation. References External links GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome* Further reading * * * * * * * * * * * * {{gene-16-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS4
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the ''BBS4'' gene. This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. Interactions BBS4 has been shown to interact Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex trai ... with DCTN1. References Further reading * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS5
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the ''BBS5'' gene. 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 required for the formation of cilia The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike proje .... Alternate transcriptional splice variants have been observed but have not been fully characterized. References External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome Further reading * * * * * * * * * * * * External links * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS7
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the ''BBS7'' gene. Mutations in this gene are associated with the Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction i .... References Further reading * * * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS8
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the ''TTC8'' gene. Function TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication during ciliogenesis. TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells. Clinical significance Mutations in the TTC8 gene is one of 14 genes identified as causal for Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in so .... References Further reading * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome a * {{gene-14-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS9
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the ''BBS9'' gene. The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. Mutations in this gene are associated with the Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction i .... References External links * Further reading * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome * {{gene-7-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS6
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the ''MKKS'' gene. This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 6 and McKusick–Kaufman syndrome McKusick–Kaufman syndrome is a genetic condition associated with MKKS. The condition is named for Dr. Robert L. Kaufman and Victor McKusick. It is sometimes known by the abbreviation MKS. In infancy it can be difficult to distinguish between MK .... Two transcript variants encoding the same protein have been identified for this gene. References External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndromeGeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome Further reading * * * * * * * * * * * * * * * * {{gene-20-stu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
