BSCL2 Proteins
BSCL2 encodes the multi-pass transmembrane protein protein seipin.
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9 results:
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 1-383) protein (rho-1D4 tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 48-242) protein (His tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 49-242) protein (His tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 264-398) protein (His tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 264-383) protein (His tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 1-398) protein (rho-1D4 tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 259-357) protein (GST tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (AA 263-354) protein (GST tag) Protein
Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) (BSCL2) (Transcript Variant 2) protein (Myc-DYKDDDDK Tag) Protein
BSCL2 Protein Profile
Protein Summary
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).
Gene names and symbols associated with BSCL2
- BSCL2, seipin lipid droplet biogenesis associated (BSCL2) antibody
- BSCL2, seipin lipid droplet biogenesis associated (Bscl2) antibody
- Berardinelli-Seip congenital lipodystrophy 2 (seipin) (Bscl2) antibody
- 2900097C17Rik antibody
- AI046355 antibody
- Gng3lg antibody
- HMN5 antibody
- SPG17 antibody
Protein level used designations for BSCL2
Bernardinelli-Seip congenital lipodystrophy type 2 protein , seipin , Bernardinelli-Seip congenital lipodystrophy 2 (seipin) , bernardinelli-Seip congenital lipodystrophy type 2 protein homolog , G protein gamma 3 linked
GENE ID | SPECIES |
---|---|
26580 | Homo sapiens |
476054 | Canis lupus familiaris |
513558 | Bos taurus |
361722 | Rattus norvegicus |
14705 | Mus musculus |
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