• Source: BSCL2

Seipin is a protein that in humans is encoded by the BSCL2 gene.




Clinical significance


Mutations in BSCL2 are known to cause the following conditions:

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






External links


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

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• BSCL2
• Congenital generalized lipodystrophy
• Seipin
• Hereditary spastic paraplegia
• List of human protein-coding genes 1
• C16orf58
• List of genes mutated in cutaneous conditions
• TMEM19
• Distal hereditary motor neuropathy type V
• List of OMIM disorder codes