LHB Chromosome 19
Luteinizing hormone subunit beta
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What This Gene Does
This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Glycoprotein hormone subunits"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000104826
Associated Conditions (1)
Isolated lutropin deficiency
Key Variants
RS121912517
Pathogenic
Isolated lutropin deficiency, Isolated lutropin deficiency
Health Risk
RS5030773
Pathogenic
Isolated lutropin deficiency, Isolated lutropin deficiency
Health Risk
RS769066903
Pathogenic
Isolated lutropin deficiency, Isolated lutropin deficiency
Health Risk
RS786204822
Pathogenic
Isolated lutropin deficiency, Isolated lutropin deficiency, Isolated lutropin deficiency
Health Risk
RS786204823
Pathogenic
Isolated lutropin deficiency, Isolated lutropin deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912517 | Health Risk | Pathogenic | Isolated lutropin deficiency, Isolated lutropin deficiency |
| RS5030773 | Health Risk | Pathogenic | Isolated lutropin deficiency, Isolated lutropin deficiency |
| RS769066903 | Health Risk | Pathogenic | Isolated lutropin deficiency, Isolated lutropin deficiency |
| RS786204822 | Health Risk | Pathogenic | Isolated lutropin deficiency, Isolated lutropin deficiency, Isolated lutropin deficiency |
| RS786204823 | Health Risk | Pathogenic | Isolated lutropin deficiency, Isolated lutropin deficiency |