Bscl2 function
WebNov 24, 2009 · Description. A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, … 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 ...
Bscl2 function
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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 function of the Seipin (BSCL2) protein remains poorly understood. Several lines of evidence have indicated that Seipin may have distinct functions in adipose versus non …
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 … 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 …
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. 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.
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 .
WebWES analysis revealed a new compound heterozygous mutation in the BSCL2 of the proband (c.545_546insCCG heterozygous mutation and exon 3 heterozygous deletion). The c.545_546insCCG mutation was predicted to cause deletion of Glu and insertion of AspArg residues at position 182 of the BSCL2 protein. His mother was a heterozygous carrier of … download movies to your computerWebWe 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). download movie student of the year 2download movies to watch on airplaneWebDurch 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 ... download movies \u0026 tv windows 10WebFeb 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... classic canadian short storiesWebDescription: 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 … classic camping trailerWebNov 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 ). download movies to watch offline on iphone