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14705 Bscl2

14705

Bscl2

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

protein-coding

Mus musculus

基因描述

Type Description
Definition Berardinelli-Seip congenital lipodystrophy 2 (seipin)

研究结论

Date Results Publications
2020-11-21 13:14:00 Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy. 31848133
2020-09-26 13:03:00 Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy. 31185001
2020-01-18 12:59:00 the effects of SEIPIN on triglyceride and PGC-1alpha are dependent on calcium concentrations, signifying regulatory activity on hepatic lipometabolism through alterations in the intracellular calcium level. 30871963
2020-01-11 11:26:00 neuronal seipin deletion causes hyperphosphorylation and aggregation of tau protein leading to axonal atrophy through reduced PPARgamma to enhance GSK3beta and Akt/mTOR signaling; systemic seipin deletion-induced insulin resistance causes tau hyperphosphorylation via cascading JNK pathway. 30910747
2019-11-16 12:44:00 Study links BSCL2 lipodystrophy to reduced triglycerides but excess glycogen in hypertrophic skeletal muscle. Incomplete fatty acid oxidation in muscle of Bscl2-/- mice results in insulin resistance, while hyperinsulinemia may trigger excessive muscle glycogen synthesis and growth. Also, circulating fatty acids level in BSCL2 lipodystrophy are a key determinant of oxidative muscle insulin sensitivity and glucose uptake. 30521848

名称对应

Type IDs
Synonymous 2900097C17Rik, AI046355, Gng3lg
Gene
UniProtKB-ID: BSCL2_MOUSE, A0A0R4J225_MOUSE
UniprotKB: Q9Z2E9, A0A0R4J225
UniParc: UPI0000020D7B, UPI000000B2CA
EMBL: BC043023, BC061689, AF069954, AK158901, AC129217, AB030196, AK151606, AK155753, AK170183, AB041588
Ensembl: ENSMUSG00000071657
KO: mmu:14705
Nucleutide sequences
EMBL-CDS: AAH61689.1, BAA95071.1, AAH43023.2, BAE34722.1, AAC77923.2, BAE30545.1, BAE41621.1, BAE33418.1, BAA92759.1
Gene_ORFName: MNCb-2630
Ensembl_TRS: ENSMUST00000086058, ENSMUST00000160556, ENSMUST00000159634, ENSMUST00000171649
Protein sequencees
Ensembl_PRO: ENSMUSP00000083224, ENSMUSP00000125422, ENSMUSP00000123976, ENSMUSP00000127685
RefSeq: XP_006526754.1, XP_030106614.1, NP_001277752.1, NP_032170.3, NP_001129536.1
Others
UniRef100: UniRef100_Q9Z2E9
UniRef90: UniRef90_Q9Z2E9
UniRef50: UniRef50_Q96G97
UniGene: Mm.345134
CCDS: CCDS70931.1

全选

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