Gene: PRKCD

Alternate names for this Gene: ALPS3|CVID9|MAY1|PKCD|nPKC-delta

Gene Summary: The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: protein kinase C delta

Type of Gene: protein-coding

rs1483186 in PRKCD 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.

rs151079563 in PRKCD gene and Circadian Rhythms PMID 30120083 2018 Genome-Wide Association Study of Circadian Rhythmicity in 71,500 UK Biobank Participants and Polygenic Association with Mood Instability.

rs1483186 in PRKCD 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.