Bscl2 function
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 … WebNov 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 ).
Bscl2 function
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WebFeb 1, 2024 · Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to i … 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 …
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 … 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 …
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 … 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 …
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).
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 ... b4 サイズ 例えば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 ... b4 サイズ 保管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). … 千種イオン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. 千秋 子供服 ブランド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. 千福が丘ひかり幼稚園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 … 千種区役所 ホームページ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. b4 サイズ 免許証 入れ