FEZF1 Chromosome 7

FEZ family zinc finger 1
2 variants 2 Health Risk

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What This Gene Does
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 Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
7q31.32
Ensembl
ENSG00000128610
Associated Conditions (1)
Hypogonadotropic hypogonadism 22 with anosmia
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS587777739 Health Risk Pathogenic Hypogonadotropic hypogonadism 22 with anosmia, Hypogonadotropic hypogonadism 22 with anosmia
RS587777740 Health Risk Pathogenic Hypogonadotropic hypogonadism 22 with anosmia, Hypogonadotropic hypogonadism 22 with anosmia
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