Bscl2 function
WebDec 6, 2005 · A multigene panelthat includes BSCL2and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of … WebSilver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex.
Bscl2 function
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WebFeb 7, 2024 · BSCL2 lipid droplet biogenesis associated, seipin provided by HGNC Primary source HGNC:HGNC:15832 See related Ensembl:ENSG00000168000 MIM:606158; AllianceGenome:HGNC:15832 Gene type protein coding ... Function Evidence Code Pubs; enables phospholipid binding: IDA. Inferred from Direct Assay WebBcl-2 is widely believed to be an apoptosis suppressor gene. Overexpression of the protein in cancer cells may block or delay onset of apoptosis, by selecting and maintaining long …
WebExcept an unexpected hypotriglyceridemia, Bscl2(-/-) mice phenotype represents an almost perfect picture of the human disease. This review analyses how these studies using … Web(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, MORC2, HINT1, LITAF, …
WebSEIPIN is a nonenzymatic protein encoded by the Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene. It is associated with lipodystrophy diseases. ... The function of nLDs is also largely unknown, but nLDs are likely to participate in storing nuclear lipids and controlling phospholipid homeostasis and stress response. All of these ... WebThese findings suggest that Bscl2 regulates adipocyte lipolysis and β-adrenergic signaling to produce complex effects on adipose tissues and whole-body energy balance. Keywords: adipose tissue; beta-oxidation; lipolysis and fatty acid metabolism; obesity; triglycerides.
WebBSCL2 - Function 1 GENE 3 ISO 127 REF Gold Only PROTEIN Protein Function Medical Expression Interactions Localization Sequence Proteomics Structures Peptides Phenotypes Exons Identifiers REFERENCES Curated publications Curated publications64Curated publications64 Additional publications59 Patents0 Submissions4 Web resources0 …
WebHowever, the role of this protein remains unclear because the pathophysiology of BSCL2 in patients with BSCL2 function disorders is little studied [3]. Nevertheless, it was identified that mutations in BSCL2 are associated with distal hereditary motor neuropathy (dHMN) and with Charcot–Marie–Tooth disease type 2 (CMT2) in a Taiwanese ... panais rapéWebNCI's Dictionary of Cancer Terms provides easy-to-understand definitions for words and phrases related to cancer and medicine. sessional lecturer usaskWebOct 1, 2009 · Loss of Bscl2 function thus interferes with the normal transcriptional cascade of adipogenesis during fat cell differentiation, resulting in near total loss of fat or lipodystrophy. Berardinelli-Seip syndrome (Bscl) is an autosomal recessive disease characterized by a near total absence of adipose tissue from birth or early infancy (1, 2). … sessional lecturer onlineWebMar 21, 2024 · BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) is a Protein Coding gene. Diseases associated with BSCL2 include Spastic Paraplegia 17, … session arbitration rds• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474. sessionauth获取授权失败WebUnder cold activation, Bscl2-/- mice were able to maintain their body temperature when fed ad libitum, but not under short fasting. At control temperature (i.e. 21 °C), fasting … session asp.net core 6WebMar 29, 2024 · The two clinical-exome sequencing identified heterozygous null mutations (c.793C > T and c.565G > T) in BSCL2 gene which was inherited from father and mother respectively. To date, it was the firstly reported CGL patient with neonatal onset diabetes. ... Biochemical tests showed no abnormalities in the liver and kidney function, FBG level … panais quelle saison