Gene: LHFPL6

Alternate names for this Gene: LHFP

Gene Summary: This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known.

Gene is located in Chromosome: 13

Location in Chromosome : 13q13.3-q14.11

Description of this Gene: LHFPL tetraspan subfamily member 6

Type of Gene: protein-coding

rs17059596 in LHFPL6 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.

rs9315681 in LHFPL6 gene and Fatty acid measurement PMID 29738550 2018 Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.

rs9315702 in LHFPL6 gene and Hippocampal atrophy PMID 22745009 2012 Multiple loci influencing hippocampal degeneration identified by genome scan.

rs17059596 in LHFPL6 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.