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Gene : BSCL2 Homo sapiens

Name  ? BSCL2 lipid droplet biogenesis associated, seipin Cytological Location  11q12.3
Brief Description  BSCL2 lipid droplet biogenesis associated, seipin
Description  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]
  • synonyms:
  • Berardinelli-Seip congenital lipodystrophy 2 (seipin),
  • NM_032667,
  • OTTHUMG00000150624,
  • SPG17,
  • PELD,
  • seipin,
  • uc001nup.4,
  • HMN5,
  • GNG3LG,
  • spastic paraplegia 17 (Silver syndrome),
  • SPG17,
  • GNG3LG,
  • BSCL2, seipin lipid droplet biogenesis associated,
  • HGNC:15832,
  • BSCL2
  • identifiers:
  • 26580,
  • ENSG00000168000,
  • BSCL2

Genome feature

Region: gene ? Length: 19358  
Location: 11:62690262-62709619 reverse strand Cyto location: 11q12.3


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Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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0 Pathways

3756 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results