BSCL2
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Seipin is a protein that in humans is encoded by the BSCL2 gene.[1][2][3]
Clinical significance
[edit | edit source]Mutations in BSCL2 are known to cause the following conditions:[4]
- Congenital generalized lipodystrophy type 2;
- Spastic paraplegia 17, autosomal dominant (SPG17);
- Neuronopathy, distal hereditary motor, 5C (HMN5C);
- Encephalopathy, progressive, with or without lipodystrophy (PELD).
References
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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on BSCL2-Related Neurologic Disorders/Seipinopathy
- Human BSCL2 genome location and BSCL2 gene details page in the UCSC Genome Browser.
Further reading
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