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. 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. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BSCL2-20-RE | 20 (40 μL) | 200 μL |  |
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| BSCL2-20-OR | 20 (40 μL) | 200 μL |  |
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| BSCL2-20-GO | 20 (40 μL) | 200 μL |  |
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| BSCL2-20-GR | 20 (40 μL) | 200 μL |  |
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| BSCL2-20-AQ | 20 (40 μL) | 200 μL |  |
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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. 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. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
Gene Symbol : BSCL2
Gene Name : BSCL2, seipin lipid droplet biogenesis associated
Chromosome : CHR 11: 627,096,18-626,902,61
Locus : 11q12.3
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