LHCGR

Chr 2ARAD

luteinizing hormone/choriogonadotropin receptor

Also known as: HHG, LCGR, LGR2, LH/CG-R, LH/CGR, LHR, LHRHR, LSH-R

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Leydig cell adenoma, somatic, with precocious pubertyMIM #176410
Leydig cell hypoplasia with hypergonadotropic hypogonadismMIM #238320
AR
Leydig cell hypoplasia with pseudohermaphroditismMIM #238320
AR
Luteinizing hormone resistance, femaleMIM #238320
AR
Precocious puberty, maleMIM #176410
AD
UniProtFamilial male precocious puberty
0
Active trials
102
Pubs (1 yr)
P/LP submissions
P/LP missense
0.89
LOEUF
Multiple*
Mechanism· predicted
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.02
OE 0.58 (0.390.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.16Z-score
OE missense 0.98 (0.891.07)
350 obs / 358.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.390.89)
00.351.4
Missense OE?0.98 (0.891.07)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 16 / 27.4Missense obs/exp: 350 / 358.7Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LHCGR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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