Recombinant Human Seipin (BSCL2)

1. SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. PMID: 29336362
2. In this Chinese Han population the novel Charcot-Marie-Tooth disease-associated gene mutations BSCL2 was discovered. PMID: 27862672
3. Mutation in BSCL2 gene is associated with Type 2 congenital generalized lipodystrophy. PMID: 28916377
4. These data identify SEIPIN as an evolutionarily conserved regulator of microsomal GPAT. PMID: 27806294
5. We identified a novel BSCL2 mutation, c.213-1336_c.294 + 1921delinsCA, which is expected to result in p.Thr72Cysfs*2, among classical Berardinelli-Seip syndrome patients in northern Peru. This null mutation was shared by five patients from two pedigrees, indicating the presence of a founder mutation. PMID: 27868354
6. Results provide evidence that the hepatic BSCL2 deficiency induces the increase and expansion of lipid droplets potentially via increased SCD1 activity. PMID: 27838812
7. results suggest that Celia seipin is probably playing an underestimated role in adipocyte maturation, but not in senescence, and its expression can be modified by exogenous factors as fatty acids. PMID: 27391332
8. Data show that all three patients exhibited characteristic features of congenital generalized lipodystrophy (CGL) due to mutations in the Bernardinelli-Seip congenital (BSCL2) gene. PMID: 27612026
9. Together, these data suggest that seipin helps to connect newly formed lipid droplets to the endoplasmic reticulum and that by stabilizing endoplasmic reticulum-lipid droplet contacts seipin facilitates the incorporation of protein and lipid cargo into growing lipid droplets in human cells. PMID: 27879284
10. Increased aggregation and subsequent impaired oligomerization of Celia seipin leads to cell death. In heterozygous carriers, wildtype seipin might prevent the damage caused by mutant seipin through its sequestration into harmless mixed oligomers. PMID: 26282322
11. BSCL2 defines the localization of adipose differentiation-related protein, which has a role in lipid accumulation and adipogenic differentiation PMID: 26975546
12. BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with distal hereditary motor neuropathy. PMID: 26815532
13. We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis PMID: 25934999
14. The S90L mutationof BSCL2 is predominantly associated with Silver syndrome PMID: 25487175
15. The mutation of seipin at glycosylation sites disrupt its function in regulating lipid droplet metabolism, and the autophagy acts as an adaptive response to break down abnormal lipid droplets. PMID: 25832430
16. a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis. PMID: 25195639
17. A missense mutation was found in BSCL2 N88S, in a patient with Silver syndrome. PMID: 25219579
18. A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy. PMID: 24961962
19. Here, we report teratozoospermia syndrome in a lipodystrophic patient with compound BSCL2 mutations, with sperm defects resembling the defects of infertile seipin null mutant mice. PMID: 24778225
20. This study presents potential molecular mechanisms by which different pathogenic mutations in the human lipodystrophy protein seipin may cause severe lipodystrophy. PMID: 23989774
21. Our results suggest that exon 7 skipping in the BSCL2 gene due to the c.985C>T mutation is responsible for a novel early onset, fatal neurodegenerative syndrome involving cerebral cortex and basal ganglia. PMID: 23564749
22. Mutation identified in BSCL2 gene causing congenital generalized lipodystrophy Pakistani population. PMID: 23659685
23. This study analysed the relationship between hepacivirus (HCV) and seipin, a protein involved in lipid droplet maturation, and suggested that the outer surface of lipid droplets is a critical factor for HCV release. PMID: 23907395
24. This study showed that a A novel polymorphism G-->T was found in the Berardinelli-Seip congenital lipodystrophy 2 gene on intron 4 in patient with hereditary motor neuropathy type V in Italy family. PMID: 22427291
25. Identification of a known BSCL2 mutation in a family with Charcot-Marie-Tooth disease. PMID: 23553728
26. This report expands the variability of the clinical spectrum associated with the BSCL2 gene and describes the first family with the p.S90W mutation. PMID: 23142943
27. The mutant seipin (Bscl2) formed protein aggregates in the CNS neurons of transgenic mice and caused a specific loss of alpha motor neurons in the ventral horn of spinal cord. PMID: 23470542
28. role of seipin in human disease PMID: 22474068
29. the increased expression of seipin markedly reduced the mass of white adipose tissue and the size of adipocytes and lipid droplets PMID: 22234369
30. the biochemical characteristics of seipin and its mis-sense mutants PMID: 21957196
31. N88S seipin mutant transgenic mice develop motor neuron disease via endoplasmic reticulum stress. PMID: 21750110
32. Case Report: novel BSCL2 mutation in an Indian patient with congenital generalized lipodystrophy associated with normal intellectual ability. PMID: 18690553
33. DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients with distal hereditary motor neuropathy type V PMID: 20598714
34. study of an Italian family with a Charcot-Marie-Tooth disease type 2 phenotype with pyramidal signs; in the 3 affected siblings an S90L mutation was revealed; confirms variability of phenotypes associated with Ser90Leu mutation PMID: 20806400
35. Japanese CGL patients with BSCL2 mutations presented with severe insulin resistance, even during infancy, prior to the development of diabetes mellitus PMID: 19438831
36. This report suggests that a different type of distal hereditary motor neuropathy could exist within one family carrying N88S mutations in BSCL2. PMID: 19323790
37. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. PMID: 14981520
38. We identified a novel nonsense mutation of seipin at codon 275 (R275X). Of four congenital generalized lipodystrophy patients, three were homozygous for R275X. No seipin mutation was found in any exon in one patient. PMID: 15126564
39. Our study indicates that the dominant N88S mutation in the Berardinelli-Seip congenital lipodystrophy gene 2 leads to a broad spectrum of motor neuron disorders. PMID: 15732094
40. description of two Dutch families with BSCL2 mutations and phenotypic variability of the gene mutation. Features are compatible with Silver syndrome, variant Silver syndrome (foot rather than hand involvement), distal HMN type II, or distal HMN type V. PMID: 16427281
41. This study reaffirms the clinical phenotype of the disorders associated with a BSCL2 Ser90Leu mutation and describes a genetically proven family with Silver syndrome and dHMN type V in Asia. PMID: 17486577
42. The 669insA mutation in exon 4 of the BSCL2 gene was identified as the major genetic alteration leading to BSCL in a group of 22 patients from the northeastern Brazilian state of Rio Grande do Norte. PMID: 17535271
43. Our data confirm that most likely only two mutations (N88S, S90L) in exon 3 of BSCL2 may lead to dHMN-V or SS phenotypes. PMID: 17663003
44. seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology PMID: 18093937
45. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinical findings PMID: 18224579
46. These results suggest that an evolutionally conserved function of seipin in phospholipid metabolism and LD formation may be functionally important in human adipogenesis. PMID: 18250201
47. Study demonstrates that BSCL2 is an essential, cell-autonomous regulator of adipogenesis. PMID: 18458148
48. The transmembrane domains in seipin are critical for ER retention, ubiquitination, formation of inclusions, and activation of UPR. Seipin expression is detected in neurons in the spinal cord and in the frontal lobe cortex of the brain. PMID: 18585921
49. Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. PMID: 18612770
50. A new subtype of congenital generalized lipodystrophy is not associated with the BSCL2 gene. PMID: 18698612

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HGNC: 15832

OMIM: 269700

KEGG: hsa:26580

STRING: 9606.ENSP00000354032

UniGene: Hs.533709