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FSHB

Chr 11p14.1

follicle stimulating hormone subunit beta

MANE:
ENST00000533718.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ovarian insufficiency

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Isolated follicle stimulating hormone deficiency

    0.74
  • hypogonadotropic hypogonadism 24 without anosmia

    0.71
  • endometriosis

    0.51
  • polycystic ovary syndrome

    0.48
  • uterine corpus leiomyoma

    0.48
  • Menorrhagia

    0.46
  • Menstrual disorder

    0.43
  • Ovarian cyst

    0.41
  • positive regulation of ovulation

    0.39
  • female reproductive system disorder

    0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Follitropin subunit beta

Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:24692546, PubMed:2494176). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432)

Curated MONDO disease pages that list FSHB among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.