The septin7 gene encodes a cytoskeletal gtpase protein localized to the cytoplasm and associated with microtubules. It is involved in pronephros development, where it functions in ciliogenesis within t...[+]

The septin7 gene encodes a cytoskeletal gtpase protein localized to the cytoplasm and associated with microtubules. It is involved in pronephros development, where it functions in ciliogenesis within the kidney tubules; its expression is regulated by the transcription factor hnf1b. During embryogenesis, septin7 is required for proper gastrulation movements as it facilitates actin and microtubule organization at the blastopore. The protein also plays a role in neural development, contributing to the morphogenesis of ciliated ependymal cells in the brain ventricle and the formation of motile cilia in the spinal cord central canal. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD