Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.1
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin.1
Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.2
- ^ a b "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30T01:43:28.833-08:00.
- ^ Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N (August 2011). "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation". Am. J. Hum. Genet. 89 (2): 320–7. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.