FEZF1

Also known as FEZ, ZNF312B, HH22, FEZ family zinc finger 1

FEZ family zinc finger 1 is a protein that in humans is encoded by the FEZF1 gene.

Gene data

FEZF1

Name: FEZ family zinc finger 1
Type: protein-coding
Position: 122,301,303–122,310,691 (−)
Aliases: FEZ, HH22, ZNF312B
Ensembl: ENSG00000128610
RefSeq RNA: NM_001024613.4, NM_001160264.3, NM_001445549.1, NM_001445550.1, NM_001445551.1
RefSeq protein: NP_001019784.2, NP_001153736.1, NP_001432478.1, NP_001432479.1, NP_001432480.1

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. [provided by RefSeq, Oct 2014].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II negative regulation of cell population proliferation telencephalon development cell dedifferentiation positive regulation of DNA-templated transcription regulation of neurogenesis

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity protein binding sequence-specific DNA binding

Cellular component

nucleus nucleus nucleoplasm

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 19252
exact match: identifiers.org/ncbigene/389549
genomic start: 122301303
genomic end: 121950745
cytogenetic location: 7q31.32

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Clinical significance
References
Further reading

FEZ family zinc finger 1 is a protein that in humans is encoded by the FEZF1 gene.

== Clinical significance == FEZF1 is a gene that encodes for transcriptional repressors, and it has been shown to repress the transcription factor HES5. In the mouse, FEZF1 is expressed in the forebrain in early development of the embryo. This suppression of HES5 helps to control the differentiation of neural stem cells. FEZF1 also helps to divide the caudal forebrain into three distinct parts during development: the prethalamus, the thalamus, and the pretectum. Mice lacking FEZF1 had no prethalamus and had a smaller thalamus. A loss of function mutation in FEZF1 causes Kallmann Syndrome. As axons are developing and migrating in the early embryo, FEZF1 allows the axons of olfactory neurons to attach to the central nervous system in the mice model. During neural development, GnRH neurons migrate through one of these olfactory axon pathways, and the loss of function of FEZF1 therefore results in the loss of GnRH neurons in the brain, the hallmark of Kallmann Syndrome.