The nbl1 gene encodes a zinc finger transcription factor expressed in the developing brain, eye, neural tube, and branchial arches. The protein localizes to the nucleus and functions as a transcription...[+]

The nbl1 gene encodes a zinc finger transcription factor expressed in the developing brain, eye, neural tube, and branchial arches. The protein localizes to the nucleus and functions as a transcriptional repressor during neurogenesis. It is involved in patterning the anterior central nervous system and regulating the formation of the midbrain-hindbrain boundary. Expression is also detected in the cranial ganglia and retina. [-]

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