GenAge entry for BSCL2 (Homo sapiens)
Gene name (HAGRID: 0186)
- 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 [0151]. Its functions are unknown.
Cytogenetic information
- Cytogenetic band
- 11q12-q13.
- Location
- 62,214,322 bp to 62,231,395 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0008150; biological_process
Function: GO:0003674; molecular_function
Cellular component: GO:0005783; endoplasmic reticulum
GO:0005789; endoplasmic reticulum membrane
GO:0016020; membrane
GO:0016021; integral to membrane
Protein interactions and network
No interactions in records.
Retrieve sequences for BSCL2
Homologues in model organisms
- Bos taurus
- BSCL2_BOVI
- Caenorhabditis elegans
- R01B10.6
- Danio rerio
- bscl2
- Drosophila melanogaster
- Seipin
- Mus musculus
- Bscl2
- Pan troglodytes
- LOC1006090
In other databases
- AnAge
- This species has an entry in AnAge
Selected references
- [1139] Kipling et al. (2004) What can progeroid syndromes tell us about human aging?, PubMed
- [0807] Bhayana et al. (2002) Cardiomyopathy in congenital complete lipodystrophy, PubMed
- [0151] Martin (1978) Genetic syndromes in man with potential relevance to the pathobiology of aging, PubMed