FEZF1

This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants.

Full Name

FEZ Family Zinc Finger 1

Research Area

Transcription repressor. Involved in the axonal projection and proper termination of olfactory sensory neurons (OSN). Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Expression is required in OSN to cell-autonomously regulate OSN axon projections. Regulates non-cell-autonomously the layer formation of the olfactory bulb development and the interneurons. May be required for correct rostral migration of the interneuron progenitors (By similarity).

Biological Process

Axon guidance Source: Ensembl
Cell dedifferentiation Source: Ensembl
Forebrain anterior/posterior pattern specification Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Neuron migration Source: Ensembl
Olfactory bulb development Source: Ensembl
Positive regulation of neuron differentiation Source: Ensembl
Positive regulation of transcription, DNA-templated Source: Ensembl
Regulation of neurogenesis Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central

Cellular Location

Nucleus

Involvement in disease

Hypogonadotropic hypogonadism 22 with or without anosmia (HH22):
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).