Bscl2 function

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August undefined, 2024

WebBackground. Seipin/BSCL2 is a homo-oligomeric membrane protein at the endoplasmic reticulum lipid droplet junction (1). Studies have demonstrated that Seipin/BSCL2 plays an important role in adipogenesis, lipid droplet homeostasis, liposis, brain development, and spermatogenesis. However, the exact function of BSCL2/Seipin is still not clear (2-5). 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.

VCV000004543.51 - ClinVar - NCBI

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 ... WebMutations in the AGPAT2, BSCL2, CAV1, and CAVIN1 genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or … directions to millbrook high school

Leptin Restores Endothelial Function via Endothelial PPARγ-Nox1 ...

WebOxysterol 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 WebThe BSCL2 gene is active in cells and tissues throughout the body, particularly in nerve cells that control muscle movement (motor neurons) and in the brain. The gene is also active in fat-storing cells called adipocytes, which are the major component of … 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 … for we are saved by grace through faith

Human Gene BSCL2 (ENST00000679883.1) from GENCODE V43

Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for …

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 … WebBscl2. Status. UniProtKB reviewed (Swiss-Prot) Organism. Mus musculus (Mouse) Amino acids. 383. Protein existence. Evidence at protein level. Annotation score. 5/5. Entry. ... Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (By similarity). directions to midway airportWebSEIPIN 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 ... directions to millard fillmore suburban

"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. " - Bscl2 function

Bscl2 function

Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for …

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 WebMar 29, 2024 · BSCL2 defines the localization of adipose differentiation-related protein, which has a role in lipid accumulation and adipogenic differentiation; BSCL2 …

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WebBSCL2. 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 … 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). …

WebFeb 24, 2024 · We decided to examine this using knockdown of seipin (Bscl2) and/or Gpat3 by siRNA in C3H10T1/2 cells. Transfection with specific siRNA two days prior to the induction of differentiation... 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.

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 … WebNov 24, 2009 · Description. A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, …

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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 … directions to milan michiganWebBcl-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 … directions to millersburg indianaWebRegarding 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 . directions to millbrook wineryWebDec 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 … for we are the guardians of friendship yarnWeb(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, … directions to millfield ohioWebExcept an unexpected hypotriglyceridemia, Bscl2(-/-) mice phenotype represents an almost perfect picture of the human disease. This review analyses how these studies using … for we are taking pains to do what is rightWebDescription: 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 … directions to milliken mayodan nc