Seipin is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''BSCL2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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*
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{protein-stub