BSCL2
Gene Information
- Official Symbol: BSCL2
- Official Name: BSCL2 lipid droplet biogenesis associated, seipin
- Aliases and Previous Symbols: N/A
- Entrez ID: 26580
- UniProt: Q96G97
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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).[provided by RefSeq, Mar 2011].
- UniProt Summary: 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. {ECO:0000250, ECO:0000269|PubMed:19278620, ECO:0000269|PubMed:21533227}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 3731
- Expression level (log2 read counts): 4.28
BSCL2 Expression in NALM6 Cells: 4.28
