BSCL2
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Official Full Name
Berardinelli-Seip congenital lipodystrophy 2 (seipin) -
Overview
This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. -
Synonyms
BSCL2;Berardinelli-Seip congenital lipodystrophy 2 (seipin);GNG3LG, spastic paraplegia 17 (Silver syndrome) , SPG17;seipin;Bernardinelli-Seip congenital lipodystrophy type 2 protein;HMN5;SPG17;GNG3LG;MGC4694;FLJ16651
Recombinant Proteins
- Rat
- Mouse
- Zebrafish
- Human
- Rhesus macaque
- Bovine
- Mammalian Cell
- Wheat Germ
- HEK293
- HEK293T
- E.coli expression system
- His
- GST
- Non
- Myc&DDK
- His&Fc&Avi
Involved Pathway
BSCL2 involved in several pathways and played different roles in them. We selected most pathways BSCL2 participated on our site, such as Adipogenesis, which may be useful for your reference. Also, other proteins which involved in the same pathway with BSCL2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Adipogenesis | MEF2AA,HMGA1-RS1,KLF6,CEBPD,MEF2B,AHR,PLIN2,CEBPA,E2F1,RORAA |
Protein Function
BSCL2 has several biochemical functions, for example, molecular_function,protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by BSCL2 itself. We selected most functions BSCL2 had, and list some proteins which have the same functions with BSCL2. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| molecular_function | EMILIN3,GM10486,CEP57L1,C1QL3B,DET1,SLC45A1,CYSTM1,CBLN8,TPRG1L,STOML3 |
| protein binding | UBA1,SLC1A2,CHRM3,TIMELESS,CCDC137,OTOF,THEM5,FKBP7,SKIL,TAF6 |
Interacting Protein
BSCL2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with BSCL2 here. Most of them are supplied by our site. Hope this information will be useful for your research of BSCL2.
TMEM19;SMIM3;Hoxa1;gabD;USE1
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