SYTL1
Description
The SYTL1 (synaptotagmin like 1) is a protein-coding gene located on chromosome 1.
SYTL1, the gene encoding synaptotagmin-like protein 1, is found in humans.
SYTL1 may play a role in vesicle trafficking and binds phosphatidylinositol 3,4,5-trisphosphate. It acts as a RAB27A effector protein and may also play a role in cytotoxic granule exocytosis in lymphocytes. This information is based on experimental evidence and computational analysis.
SYTL1 is also known as JFC1, SLP1.
Associated Diseases
- common variable immunodeficiency
- isolated agammaglobulinemia
- annular pancreas
- immunodeficiency 72 with autoinflammation
- immunodeficiency 18
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- exercise-induced hyperinsulinism
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- immunodeficiency 105
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- primary familial polycythemia due to EPO receptor mutation
- immunodeficiency 62
- severe combined immunodeficiency due to CTPS1 deficiency
- severe combined immunodeficiency due to IKK2 deficiency
- severe combined immunodeficiency due to LAT deficiency
- hyperinsulinemic hypoglycemia, familial, 2
- immunodeficiency due to selective anti-polysaccharide antibody deficiency
- immunodeficiency, common variable, 4
- agammaglobulinemia 7, autosomal recessive
