The gfi1 gene encodes a transcriptional repressor protein belonging to the snail/gfi family of zinc finger DNA-binding proteins. The protein localizes to the nucleus. It is expressed in the developing ...[+]

The gfi1 gene encodes a transcriptional repressor protein belonging to the snail/gfi family of zinc finger DNA-binding proteins. The protein localizes to the nucleus. It is expressed in the developing nervous system, including the brain, cranial ganglia, and spinal cord, as well as in the eye, otic vesicle, and pronephros. Its functions include roles in neuronal development, inner ear formation, and hematopoiesis. [-]

             severe congenital neutropenia 1
             severe congenital neutropenia 2

          NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1
          NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2

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