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

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

rs13405728 in STON1-GTF2A1L;LHCGR gene and Polycystic Ovary Syndrome PMID 22885925 2012 Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

PMID 21151128 2011 We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34).