SPART : spartin
Description
The SPART (spartin) is a protein-coding gene located on chromosome 13.
The SPART gene provides instructions for producing the spartin protein, whose precise function is not fully understood. Researchers believe spartin may be involved in various cellular processes, from protein breakdown to endocytosis (transporting materials from the cell surface into the cell). Spartin is found in many tissues throughout the body, including the nervous system.
SPART may be involved in endosomal trafficking and/or microtubule dynamics. It participates in cytokinesis (PubMed:20719964).
SPART is also known as SPG20, TAHCCP1.
Associated Diseases
- Autosomal recessive spastic paraplegia type 20
- Spastic paraplegia 20, autosomal recessive
- Troyer syndrome
