SYT14

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Synaptotagmin XIV
Identifiers
SymbolsSYT14; SCAR11; sytXIV
External IDsOMIM: 610949 HomoloGene: 17719 GeneCards: SYT14 Gene
Orthologs
SpeciesHumanMouse
Entrez255928329324
EnsemblENSG00000143469ENSMUSG00000016200
UniProtQ8NB59Q7TN84
RefSeq (mRNA)NM_001146261NM_181546
RefSeq (protein)NP_001139733NP_853524
Location (UCSC)Chr 1:
210.11 – 210.34 Mb		Chr 1:
192.9 – 193.04 Mb
PubMed search
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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]

References

  1. ↑ 1.0 1.1 "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30. 
  2. ↑ 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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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