Symbol: Name: ID: |
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) GFS:4973 |
Gene name: | BSCL2 |
Chromosome: | 11q13 |
Previous Symbols: | GNG3LG, SPG17 |
Previous Names: | spastic paraplegia 17 (Silver syndrome) |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1298392 | Rat Genome Database ID: | RGD:1308135 |
HGNC ID: | HGNC:15832 | RefSeq IDs: | NM_001122955 |
Entrez Gene ID: | 26580 | Ensembl Gene ID: | ENSG00000168000 |
VEGA IDs: | OTTHUMG00000150624 | UniProt ID: | Q96G97 |
UCSC ID: | uc009yod.2 | OMIM ID: | 606158 |
Pubmed: | PMID11479539 PMID 14981520 | ||
CCDS IDs: | CCDSCCDS8031.1 CCDS CCDS44627.1 |
Seipin is a protein that in humans is encoded by the 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].
Products for BSCL2 gene
Catalog | Product Name | Application | Company |
GFS:E04973 | Berardinelli-Seip congenital lipodystrophy 2 (seipin); ELISA kit | ELISA | n/a |
GFS:A04973 | Berardinelli-Seip congenital lipodystrophy 2 (seipin); Anti | ANTIBODIES | n/a |
GFS:P04973 | Berardinelli-Seip congenital lipodystrophy 2 (seipin); Protien | Protien | n/a |