SYT14 gene

synaptotagmin 14

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]

From UniProt:

May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent.

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 11

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation. [MIM:614229]

Cytogenetic Location: 1q32.2, which is the long (q) arm of chromosome 1 at position 32.2

Molecular Location: base pairs 209,938,165 to 210,171,315 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.2, which is the long (q) arm of chromosome 1 at position 32.2
  • SCAR11
  • sytXIV