Aliases for BSCL2 Gene
External Ids for BSCL2 Gene
Previous HGNC Symbols for BSCL2 Gene
Previous GeneCards Identifiers for BSCL2 Gene
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]
GeneCards Summary for BSCL2 Gene
BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)) is a Protein Coding gene. Diseases associated with BSCL2 include lipodystrophy, congenital generalized, type 2 and encephalopathy, progressive, with or without lipodystrophy. Among its related pathways are Adipogenesis.
UniProtKB/Swiss-Prot for BSCL2 Gene
Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.