Gene: PUDP

Alternate names for this Gene: DXF68S1E|FAM16AX|GS1|HDHD1|HDHD1A

Gene Summary: This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.31

Description of this Gene: pseudouridine 5'-phosphatase

Type of Gene: protein-coding

rs4830580 in PUDP 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.

rs5935876 in PUDP gene and Dehydroepiandrosterone sulfate measurement (procedure) PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs4830580 in PUDP 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.