UniProt AC | UniProt Status | Protein Name | Organism | PMID | Article Title | Category | Annotation | Contributor | ORCID | Submission Date | |
Q9NY46 | Reviewed | Sodium channel protein type 3 subunit alpha | Homo sapiens (Human). | 30146301 | Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. | [Function][Subcellular location][Pathology & Biotech][Expression][Sequence] | Protein/gene_name: NaV1.3; SCN3A. Function: SCN3A is present in dividing cells and newbowrn neurons in the fetal human cerebral cortex. Gain-of-function mutations generate cortical malformations in individuals, leading to an overfolded cerebral cortex. Disease:Cortical Malformation; Polymicrogyria; Oral Motor Development. | Anonymous | Anonymous | 2019-10-29 |