Bscl2 function

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August undefined, 2024

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 ...

A New Compound Heterozygous Mutation Of BSCL2 In A Chinese …

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

Genotype-phenotype correlations of Berardinelli-Seip …

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 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 ... 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 … hotels near rockvale outlets pa

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

GPAT3 deficiency alleviates insulin resistance and hepatic

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... • 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. limited facilities is a driver of outsourcing limited facilities

"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 … " - Bscl2 function

Bscl2 function

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. 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.

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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 … 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).

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

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

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WebOct 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 … limited face to face in the philippinesWebNov 24, 2009 · Function Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis ( PubMed: 19278620, PubMed: 21533227, PubMed: 31708432, PubMed: 30293840 ). In association with LDAF1, defines the sites of LD formation in the ER ( PubMed: 31708432 ). hotels near rockville centreWebDurch 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 ... limited face to face learning modalityWebDec 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 … limited facility clearanceWebBSCL2. 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 … limited face to face learning planWebOct 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). … limited factor meaningWeb(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, … limited factory