HYDIN 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. [provided by RefSeq, Jan 2013]

HYDIN Details

Gene Symbol : HYDIN

Gene Name : HYDIN, axonemal central pair apparatus protein

Chromosome : CHR 16: 712,307,21-708,020,83

Locus : 16q22.2

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VAC14 Summary

This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]

VAC14 Details

Gene Symbol : VAC14

Gene Name : Vac14, PIKFYVE complex component

Chromosome : CHR 16: 708,011,68-706,874,38

Locus : 16q22.1-q22.2

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