Synaptotagmin-14

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.[5]

Clinical relevance

Mutations in this gene have been shown to cause autosomal recessive spinocerebellar ataxia with psychomotor retardation.[6]

gollark: Arbitrary estimates for the computation required to run a brain which I read somewhere claim you'd need something like an exabyte of storage and an exaflop of... computing power?
gollark: Indeed. Much easier.
gollark: I don't actually know.
gollark: How many synapses do humans have again?
gollark: Well, my brain can probably fit in less than a yottabyte.

References
  1. GRCh38: Ensembl release 89: ENSG00000143469 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000016200 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Synaptotagmin XIV". Retrieved 2011-12-30.
  6. 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

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


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