Synaptotagmin-14 Explained
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.[1]
Function
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]
Clinical relevance
Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[2]
Further reading
- Fukuda M . Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans . Journal of Biochemistry . 133 . 5 . 641–9 . May 2003 . 12801916 . 10.1093/jb/mvg082 .
- Craxton M . Synaptotagmin gene content of the sequenced genomes . BMC Genomics . 5 . 1 . 43 . July 2004 . 15238157 . 471550 . 10.1186/1471-2164-5-43 . free .
- Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH . Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities . American Journal of Medical Genetics Part A . 143A . 6 . 558–63 . March 2007 . 17304550 . 10.1002/ajmg.a.31618 . 36533140 .
Notes and References
- Web site: Entrez Gene: Synaptotagmin XIV. 2011-12-30 .
- 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 . Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation . American Journal of Human Genetics . 89 . 2 . 320–7 . August 2011 . 21835308 . 3155161 . 10.1016/j.ajhg.2011.07.012 .
