Synaptotagmin-14
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.[5]
SYT14 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | SYT14, SCAR11, sytXIV, synaptotagmin 14 | ||||||||||||||||||||||||
External IDs | OMIM: 610949 MGI: 2444490 HomoloGene: 17719 GeneCards: SYT14 | ||||||||||||||||||||||||
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Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
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Location (UCSC) | Chr 1: 209.9 – 210.17 Mb | Chr 1: 192.89 – 193.04 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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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.[5]
Clinical relevance
Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[6]
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gollark: I should probably have been doing that anyway, but my networking setup is filled with accursed eldritch horrors so I can't transfer stuff to my server fast enough for backups to work.
gollark: Also, disassembling it would be really annoying and I have none of those things.
gollark: I'm speculating. It just might have.
gollark: It's still under warranty but I don't really want to be laptopless for ??? time while it's shipped off to be repaired.
References
- GRCh38: Ensembl release 89: ENSG00000143469 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000016200 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Synaptotagmin XIV". Retrieved 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 (August 2011). "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. doi:10.1016/j.ajhg.2011.07.012. PMC 3155161. PMID 21835308.
Further reading
- Fukuda M (May 2003). "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. doi:10.1093/jb/mvg082. PMID 12801916.
- Craxton M (July 2004). "Synaptotagmin gene content of the sequenced genomes". BMC Genomics. 5 (1): 43. doi:10.1186/1471-2164-5-43. PMC 471550. PMID 15238157.
- Quintero-Rivera F, Chan A, Donovan DJ, Gusella JF, Ligon AH (March 2007). "Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities". American Journal of Medical Genetics Part A. 143A (6): 558–63. doi:10.1002/ajmg.a.31618. PMID 17304550.
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