BSCL2, Official Symbol BSCL2provided by HGNC Official Full Name BSCL2 lipid droplet biogenesis associated, seipinprovided by HGNC Primary source HGNC:HGNC:15832 See related Ensembl:ENSG00000168000 MIM:606158; AllianceGenome:HGNC:15832 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HMN5; PELD; HMN5C; SPG17; GNG3LG 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] Expression Broad expression in testis (RPKM 67.3), brain (RPKM 64.7) and 25 other tissues See more Orthologs mouse all