Structural highlights
Disease
SPTCS_HUMAN Autosomal recessive Charcot-Marie-Tooth disease type 2X;Juvenile amyotrophic lateral sclerosis;Autosomal recessive spastic paraplegia type 11. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
SPTCS_HUMAN May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.[1]
References
- ↑ Pérez-Brangulí F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, Dorca-Arevalo J, Regensburger M, Graef D, Sock E, Blasi J, Groemer TW, Schlötzer-Schrehardt U, Winkler J, Winner B. Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet. 2014 Sep 15;23(18):4859-74. PMID:24794856 doi:10.1093/hmg/ddu200
