LHCGR Chromosome 2
Luteinizing hormone/choriogonadotropin receptor
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What This Gene Does
This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycoprotein hormone receptors
Locus Type
gene with protein product
Location
2p16.3
Ensembl
ENSG00000138039
Associated Conditions (18)
Gonadotropin-independent familial sexual precocity
Leydig cell agenesis
Precocious puberty in males
LHCGR-related disorder
Inborn genetic diseases
Disorder of sexual differentiation
Leydig cell adenoma
somatic
with male-limited precocious puberty
Leydig cell tumor
Luteinizing hormone resistance
female
Leydig cell hypoplasia
type II
Pseudohermaphroditism
See cases
Leydig hypoplasia
type I
Key Variants
RS111834744
Conflicting classifications of pathogenicity
Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
Health Risk
RS114320052
Conflicting classifications of pathogenicity
Gonadotropin-independent familial sexual precocity, Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
Health Risk
RS1209400793
Conflicting classifications of pathogenicity
Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
Health Risk
RS121912518
Conflicting classifications of pathogenicity
Gonadotropin-independent familial sexual precocity, Precocious puberty in males, Leydig cell agenesis
Health Risk
RS121912539
Conflicting classifications of pathogenicity
Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
Health Risk
RS140148170
Conflicting classifications of pathogenicity
Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
Health Risk
RS140691492
Conflicting classifications of pathogenicity
Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, LHCGR-related disorder
Health Risk
RS140788691
Conflicting classifications of pathogenicity
Gonadotropin-independent familial sexual precocity, Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
Health Risk
RS143697410
Conflicting classifications of pathogenicity
Health Risk
RS148244033
Conflicting classifications of pathogenicity
Gonadotropin-independent familial sexual precocity, Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
Health Risk
RS149766676
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1572817589
Conflicting classifications of pathogenicity
Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912537 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS121912538 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS121912540 | Health Risk | Pathogenic | Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity |
| RS140568136 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS144859947 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS1668121333 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS2103767948 | Health Risk | Pathogenic | — |
| RS2104352652 | Health Risk | Pathogenic | Leydig cell agenesis, Luteinizing hormone resistance, female |
| RS2529810344 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS71245621 | Health Risk | Pathogenic | Leydig cell agenesis, Leydig cell agenesis |
| RS750481017 | Health Risk | Pathogenic | Pseudohermaphroditism, Pseudohermaphroditism |
| RS757225917 | Health Risk | Pathogenic | Gonadotropin-independent familial sexual precocity, Leydig cell agenesis, Gonadotropin-independent familial sexual precocity |
| RS767343825 | Health Risk | Pathogenic | — |
| RS121912523 | Health Risk | Pathogenic/Likely pathogenic | Leydig cell agenesis, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis |
| RS121912524 | Health Risk | Pathogenic/Likely pathogenic | Leydig cell agenesis, Luteinizing hormone resistance, female |
| RS121912525 | Health Risk | Pathogenic/Likely pathogenic | Leydig hypoplasia, type I, Leydig cell agenesis |
| RS773279269 | Health Risk | Pathogenic/Likely pathogenic | Leydig cell agenesis, LHCGR-related disorder, Leydig cell agenesis |