Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.[5]
| SYT14 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SYT14, SCAR11, sytXIV, synaptotagmin 14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610949; MGI: 2444490; HomoloGene: 17719; GeneCards: SYT14; OMA:SYT14 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
editThis 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
editMutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[6]
References
edit- ^ a b c GRCh38: Ensembl release 89: ENSG00000143469 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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
edit- 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. S2CID 36533140.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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