Gene: PPM1A

Alternate names for this Gene: PP2C-ALPHA|PP2CA|PP2Calpha

Gene Summary: The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.1

Description of this Gene: protein phosphatase, Mg2+/Mn2+ dependent 1A

Type of Gene: protein-coding

rs1887103 in PPM1A gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.