Gene: PKD1L1

Alternate names for this Gene: HTX8|PRO19563

Gene Summary: This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined.

Gene is located in Chromosome: 7

Location in Chromosome : 7p12.3

Description of this Gene: polycystin 1 like 1, transient receptor potential channel interacting

Type of Gene: protein-coding

rs17710886 in PKD1L1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs528302390 in PKD1L1 gene and Congenital atresia of pulmonary artery PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and Congenitally corrected transposition of the great arteries with ventricular septal defect PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs528302390 in PKD1L1 gene and Double Outlet Right Ventricle PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and HETEROTAXY, VISCERAL, 8, AUTOSOMAL PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs528302390 in PKD1L1 gene and Indeterminate atrial arrangement PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs886037834 in PKD1L1 gene and Paroxysmal atrial fibrillation PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs528302390 in PKD1L1 gene and Right aortic arch (disorder) PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs17710886 in PKD1L1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs528302390 in PKD1L1 gene and Situs Inversus PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs528302390 in PKD1L1 gene and Situs inversus totalis PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

PMID 27616478 2016 In the second family, a homozygous c.5072G>C (p.Cys1691Ser) missense mutation was detected in an individual with SIT and congenital heart disease.

rs528302390 in PKD1L1 gene and Transposition of Great Vessels PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

rs528302390 in PKD1L1 gene and Unbalanced atrioventricular canal defect PMID 27616478 2016 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.