Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)
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BSCL2; GNG3LG; SPG17; Seipin ; Spastic Paraplegia 17
 HGNC 15832
 MGI 1298392
 PubMed 18458148
 RGD 1308135
 UniProt Q96G97
 USCN K182
 Wiki BSCL2
Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2)
BSCL2 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.
BSCL2 open reading frame encodes a deduced 398-amino acid protein, seipin, with at least 2 hydrophobic amino acid stretches, indicating that it could be a transmembrane protein. It has 87% identity to the mouse Gng3lg product, and partial homology to Drosophila CG9904 protein.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Rattus norvegicus (Rat)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a