LHB Gene (Luteinizing Hormone Subunit Beta): Function, Mutations, and Associated Diseases
Comprehensive biomedical resource on the LHB gene, covering genomic context, protein function, expression, clinical significance, and mutations.
Gene Information Card
| Symbol | LHB |
|---|---|
| Full Name | Luteinizing Hormone Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 3972 ncbi.nlm.nih.gov/gene/3972 |
| Ensembl ID | ENSG00000104826 |
| UniProt ID | P01229 |
| OMIM ID | 152780 |
| HGNC ID | 6584 |
| Aliases | LHB, LH-B, CGB4, LSH-B, hLHB |
Description
The LHB gene encodes the beta subunit of luteinizing hormone (LH), a heterodimeric glycoprotein essential for reproductive function. The beta subunit confers biological specificity to the hormone, enabling it to bind to the LH receptor (LHCGR) in the gonads. LH is secreted by the anterior pituitary gland and plays a critical role in ovulation, corpus luteum maintenance, and testosterone production in males. Mutations in LHB can lead to isolated hypogonadotropic hypogonadism, characterized by delayed puberty and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Isolated hypogonadotropic hypogonadism (IHH) | Loss-of-function mutations in LHB lead to the production of a non-functional or absent LH beta subunit, preventing the formation of a biologically active LH heterodimer. This results in impaired stimulation of gonadal steroidogenesis and gametogenesis. | ClinVar, OMIM |
| Delayed puberty | Inactivating mutations in LHB can cause a delay in the onset of puberty due to insufficient LH-mediated sex steroid production. | ClinVar, OMIM |
| Male infertility | Deficient LH signaling due to LHB mutations leads to Leydig cell failure, resulting in low testosterone levels and impaired spermatogenesis. | ClinVar, OMIM |
| Amenorrhea | In females, LHB mutations disrupt ovulation and corpus luteum function, leading to anovulation and primary or secondary amenorrhea. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Pituitary Gland | High | Tissue-specific expression |
| Testis | Low | Expression in Leydig cells |
| Ovary | Low | Expression in theca cells |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| LβT2 | High | Mouse pituitary gonadotrope cell line |
| αT3-1 | Moderate | Mouse pituitary gonadotrope precursor cell line |
| HeLa | Low | Cervical cancer cell line (ectopic expression) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.18C>A (p.Cys6Ter) | Nonsense | Rare | Premature stop codon leading to a truncated, non-functional protein. |
| c.104G>A (p.Trp35Ter) | Nonsense | Rare | Premature stop codon resulting in a severely truncated protein. |
| c.178C>T (p.Arg60Cys) | Missense | Rare | Disrupts disulfide bond formation, affecting protein folding and heterodimerization. |
| c.211G>A (p.Gly71Arg) | Missense | Rare | Impairs subunit assembly and receptor binding. |
Mutation functional classification
Loss of Function (LOF)
Most LHB mutations are loss-of-function, leading to reduced or absent LH activity. This is the primary mechanism for isolated hypogonadotropic hypogonadism.
Gain of Function (GOF)
No gain-of-function mutations have been clinically characterized for LHB.
Dominant Negative (DN)
No dominant-negative effects have been reported for LHB mutations; the phenotype is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity | • protein heterodimerization activity |
| • signaling receptor binding | • extracellular space |
| • response to gonadotropin-releasing hormone | • regulation of steroid biosynthetic process |
Pathways
• GnRH signaling pathway
• Gonadotropin-releasing hormone receptor pathway
• Steroid hormone biosynthesis
Protein Summary
The LHB protein is a 141-amino acid polypeptide that forms the beta subunit of luteinizing hormone. It is synthesized in gonadotrope cells of the anterior pituitary. The mature protein contains a glycosylation site and several disulfide bonds critical for its structure. It non-covalently associates with the common alpha subunit (CGA) to form the biologically active LH heterodimer. LH acts on the gonads to regulate steroidogenesis and gametogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LHB Knockout HEK293 Cell Line | EDJ-KQ1761 | Human | 3972 | Details Get a Quote |
| LHB Knockout HeLa Cell Line | EDJ-KQ53792 | Human | 3972 | Details Get a Quote |
| LHB Knockout A-549 Cell Line | EDJ-KQ62269 | Human | 3972 | Details Get a Quote |
| LHB Knockout HCT 116 Cell Line | EDJ-KQ70754 | Human | 3972 | Details Get a Quote |
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