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: when thermal dynamics
gollark: <@!309787486278909952> ÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆÆ
gollark: Ideally soonish so I can [REDACTED] this [DATA EXPUNGED].
gollark: <@!309787486278909952> I accidentally omitted Thermal Dynamics, the Thermal Expansion addon adding pipes and stuff... could you add that? It's got no worldgen.
gollark: Which reminds me, we should get the blood magic mod!

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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.