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LHB

Chr 19q13.33

luteinizing hormone subunit beta

Aliases:
LSH-B, CGB4, hLHB
MANE:
ENST00000649238.3

Annotations refreshed 9 hours 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

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism 23 with or without anosmia

    0.68
  • Leydig cell hypoplasia due to LHB deficiency

    0.64
  • hypogonadotropic hypogonadism

    0.14
  • hepatocellular carcinoma

    0.09
  • neoplasm

    0.09
  • uterine disorder

    0.09
  • Menkes disease

    0.08
  • Kallmann syndrome

    0.07
  • 46,XX testicular disorder of sex development

    0.07
  • 46,XY complete gonadal dysgenesis

    0.06

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

Protein function (UniProt)

Lutropin subunit beta

Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids

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.