Gene: HYDIN

Alternate names for this Gene: CILD5|HYDIN1|HYDIN2|PPP1R31

Gene Summary: This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: HYDIN axonemal central pair apparatus protein

Type of Gene: protein-coding

rs62039170 in HYDIN gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs111843364 in HYDIN gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12149261 in HYDIN gene and White Blood Cell Count procedure PMID 21738479 2011 The index SNP (rs12149261) on chromosome 16q22 associated with WBC count is located in a large inter-chromosomal segmental duplication encompassing part of the hydrocephalus inducing homolog (HYDIN) gene.