GenAge entry for BSCL2 (Homo sapiens)
Gene name (HAGRID: 186)
- HGNC symbol
- BSCL2
- Aliases
- GNG3LG; SPG17
- Common name
- Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
- Description
Mutations in the human BSCL2 gene have been associated with Bernardinelli-Seip congenital lipodystrophy, a possible segmental progeroid syndrome [151]. Its functions are unknown.
Cytogenetic information
- Cytogenetic band
- 11q13
- Location
- 62,690,262 bp to 62,706,315 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0016042; lipid catabolic process
GO:0019915; lipid storage
GO:0034389; lipid particle organization
GO:0045444; fat cell differentiation
GO:0050995; negative regulation of lipid catabolic process
Cellular component: GO:0030176; integral component of endoplasmic reticulum membrane
Show all GO termsFunction: GO:0003674; molecular_function
GO:0005515; protein binding
Protein interactions and network
No interactions in records.
Retrieve sequences for BSCL2
Homologs in model organisms
- Caenorhabditis elegans
- CELE_R01B10.6
- Danio rerio
- bscl2
- Drosophila melanogaster
- Seipin
- Mus musculus
- Bscl2
- Rattus norvegicus
- Bscl2
- Schizosaccharomyces pombe
- SPAC3A11.04