2024 Bscl2 function

Bscl2 function

Author: ckgh

August undefined, 2024

WebWe screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2. We confirmed three cases of known mutations (p.N88S and p.S90L) and two cases of novel mutations (p.N88T and p.S141A). 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

BSCL2 -Related Neurologic Disorders / Seipinopathy

WebOct 28, 2024 · As humans, gBscl2-/-(global Bscl2-deficient) mice present with a near total absence of adipose tissue, organomegaly, insulin resistance, and type 2 diabetes … WebNov 24, 2009 · Description. A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, … top rated usb headphones

Bcl-2 - an overview ScienceDirect Topics

WebSeipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Bernardinelli-Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2. 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 … top rated usb outlet

The neonatal onset diabetes mellitus of Chinese neonate with …

BSCL2-Related Neurologic Disorders/Seipinopathy - GeneReviews® - N…

WebApr 29, 2024 · The major reason could be that BSCL2 is highly expressed in many brain-related tissues. In addition, patients with premature death all belonged to BCSL type II and patients with BSCL type I are more likely to have cysts in long bones. WebDec 1, 2024 · BSCL2, or seipin, is an endoplasmic reticulum (ER)-resident protein that is induced in late stages of preadipocyte differentiation and is predicted to function in lipid … top rated usb hub• 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. top rated usb wifi antenna

"WebDescription: Homo sapiens BSCL2 lipid droplet biogenesis associated, seipin (BSCL2), transcript variant 2, mRNA. (from RefSeq NM_032667) RefSeq Summary (NM_032667): This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. " - Bscl2 function

Bscl2 function

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese …

WebApr 11, 2024 · Background Retinoic acid (RA) plays important role in the maintenance and differentiation of the Müllerian ducts during the embryonic stage via RA receptors (RARs). However, the function and mechanism of RA-RAR signaling in the vaginal opening are unknown. Method We used the Rarα knockout mouse model and the wild-type … WebDescription: Is a regulator of lipid catabolism essential for adipocyte differentiation (By similarity). Necessary for correct lipid storage and lipid droplets maintenance. (from UniProt Q96G97) RefSeq Summary (NR_037948): This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic …

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WebOct 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). … WebRegarding BSCL2 mutations investigated in the present study, two missense variants (rs330154033 and rs81333153) are located in the IPR009617 protein domain, which is the seipin family domain, whose primary function is to control the adipogenesis process by regulating lipolysis in a cell-independent manner .

Webseipin function in the brain may help explain why intellectual disability can occur with this form of the condition. Distal hereditary motor neuropathy, type V At least two BSCL2 … WebDurch neue genetische Test- vorrangig sensiblen (und autonomen) Störungen (HSN, methoden („next-generation sequencing“ [NGS]), die sich HSAN) [8] oder gemischten Formen (HMSN) [3–6]. Die auch in der Diagnostik hereditärer Neuropathien bereits be- klassische HMSN ist auch nach ihren Erstbeschreibern 1886 währt haben [16], ist mit der ...

WebMar 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 … 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 …

WebExcept an unexpected hypotriglyceridemia, Bscl2(-/-) mice phenotype represents an almost perfect picture of the human disease. This review analyses how these studies using …

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. top rated usb sticksWebNCI's Dictionary of Cancer Terms provides easy-to-understand definitions for words and phrases related to cancer and medicine. top rated usb travel wall chargerWebBSCL2. Indeed, BSCL2 is an ER-resident membrane protein, and the N88S and S90L mutations determine an improperly-folded protein which accumulates in the ER, leading … top rated usb wireless adapterWebOxysterol 7-alpha-hydroxylase helps maintain normal cholesterol levels in the brain and, by producing neurosteroids through altering existing hormones within the pathway, regulates the effects of neurosteroids on the brain. Health Conditions Related to Genetic Changes Other Names for This Gene Additional Information & Resources References top rated usb wall chargerWebMar 21, 2024 · BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin) is a Protein Coding gene. Diseases associated with BSCL2 include Spastic Paraplegia 17, … top rated usb wifiWebOct 26, 2024 · BioSystems BLAST (Basic Local Alignment Search Tool) BLAST (Stand-alone) BLAST Link (BLink) Conserved Domain Database (CDD) Conserved Domain Search Service (CD Search) E-Utilities ProSplign Protein Clusters Protein Database Reference Sequence (RefSeq) All Proteins Resources... Sequence Analysis BLAST (Basic Local … top rated usb wireless adaptersWebBcl-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 … top rated usborne books