Gene: LHCGR

Alternate names for this Gene: HHG|LCGR|LGR2|LH/CG-R|LH/CGR|LHR|LHRHR|LSH-R|ULG5

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: luteinizing hormone/choriogonadotropin receptor

Type of Gene: protein-coding

Gene: GTF2A1L

Alternate names for this Gene: ALF

Gene Summary: The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: general transcription factor IIA subunit 1 like

Type of Gene: protein-coding

Gene: STON1-GTF2A1L

Alternate names for this Gene: ALF|GTF2A1L|GTF2A1LF|SALF

Gene Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.3

Description of this Gene: STON1-GTF2A1L readthrough

Type of Gene: protein-coding

rs121912531 in LHCGR;GTF2A1L;STON1-GTF2A1L gene and Familial Testotoxicosis PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 8929952 1996 A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 11134146 2000 Lastly, the identification of a novel activating L368P mutation in the first transmembrane helix of two Brazilian boys with familial male-limited precocious puberty provides further insights into the mechanism of activation of the hLHR.

rs121912536 in LHCGR;GTF2A1L;STON1-GTF2A1L gene and Leydig cell agenesis PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.