SYT14

SYT14
Identifiers
Aliases SYT14, SCAR11, sytXIV, synaptotagmin 14
External IDs MGI: 2444490 HomoloGene: 17719 GeneCards: SYT14
Orthologs
Species Human Mouse
Entrez

255928

329324

Ensembl

ENSG00000143469

ENSMUSG00000016200

UniProt

Q8NB59

Q7TN84

RefSeq (mRNA)

NM_001146261
NM_001146262
NM_001146264
NM_001256006
NM_153262

NM_001301370
NM_181546

RefSeq (protein)

NP_001139734.1
NP_001242935.1
NP_694994.2

NP_853524.1

Location (UCSC) Chr 1: 209.94 – 210.17 Mb Chr 1: 192.89 – 193.04 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.[3]

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.[3]

Clinical relevance

Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[4]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.
  4. ↑ 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 3155161Freely accessible. 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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