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| Synaptotagmin XIV | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SYT14; SCAR11; sytXIV | ||||||||||||
| External IDs | OMIM: 610949 HomoloGene: 17719 GeneCards: SYT14 Gene | ||||||||||||
|
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 255928 | 329324 | |||||||||||
| Ensembl | ENSG00000143469 | ENSMUSG00000016200 | |||||||||||
| UniProt | Q8NB59 | Q7TN84 | |||||||||||
| RefSeq (mRNA) | NM_001146261 | NM_181546 | |||||||||||
| RefSeq (protein) | NP_001139733 | NP_853524 | |||||||||||
| Location (UCSC) | Chr 1: 210.11 – 210.34 Mb |
Chr 1: 192.9 – 193.04 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.[1]
Contents |
Function[edit]
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[edit]
Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[2]
References[edit]
- ^ 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.
Further reading[edit]
- Fukuda, M. (2003). "Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans". Journal of biochemistry 133 (5): 641–649. PMID 12801916.
- Craxton, M. (2004). "Synaptotagmin gene content of the sequenced genomes". BMC Genomics 5: 43. doi:10.1186/1471-2164-5-43. PMC 471550. PMID 15238157.
- Quintero-Rivera, F.; Chan, A.; Donovan, D. J.; Gusella, J. F.; Ligon, A. H. (2007). "Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities". American Journal of Medical Genetics Part A 143A (6): 558–563. doi:10.1002/ajmg.a.31618. PMID 17304550.
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This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it. |
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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