FSHB Chromosome 11
Follicle stimulating hormone subunit beta
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What This Gene Does
The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Glycoprotein hormone subunits"
Locus Type
gene with protein product
Location
11p14.1
Ensembl
ENSG00000131808
Associated Conditions (2)
Hypogonadotropic hypogonadism 24 without anosmia
FSHB-related disorder
Key Variants
RS10835638
association
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS34365964
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS6170
Conflicting classifications of pathogenicity
Hypogonadotropic hypogonadism 24 without anosmia, FSHB-related disorder, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS374623109
Likely pathogenic
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS121909666
Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS5030776
Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS5030777
Pathogenic
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
RS5030646
Pathogenic/Likely pathogenic
Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10835638 | Health Risk | association | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS34365964 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS6170 | Health Risk | Conflicting classifications of pathogenicity | Hypogonadotropic hypogonadism 24 without anosmia, FSHB-related disorder, Hypogonadotropic hypogonadism 24 without anosmia |
| RS374623109 | Health Risk | Likely pathogenic | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS121909666 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS5030776 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS5030777 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |
| RS5030646 | Health Risk | Pathogenic/Likely pathogenic | Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia |