Pub. Date : 2019 May
PMID : 31240161
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. | Serotonin | solute carrier family 18 member A2 | Homo sapiens |
| 2 | Background: Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into platelet dense granules. | Serotonin | solute carrier family 18 member A2 | Homo sapiens |
| 3 | Background: Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into platelet dense granules. | Serotonin | solute carrier family 18 member A2 | Homo sapiens |
| 4 | Background: Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into platelet dense granules. | Serotonin | solute carrier family 18 member A2 | Homo sapiens |