SYT14

From Wikipedia, the free encyclopedia
Jump to: navigation, search
SYT14
Identifiers
Aliases SYT14, SCAR11, sytXIV, synaptotagmin 14
External IDs MGI: 2444490 HomoloGene: 17719 GeneCards: SYT14
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001146261
NM_001146262
NM_001146264
NM_001256006
NM_153262

NM_001301370
NM_181546

RefSeq (protein)

NP_001139733
NP_001139734
NP_001139736
NP_001242935
NP_694994

NP_853524.1
NP_001288299
NP_853524

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

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

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.[3]

Clinical relevance[edit]

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

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "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[edit]

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