AQP1 Summary

This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]

AQP1 Details

Gene Symbol : AQP1

Gene Name : Aquaporin 1 (Colton blood group)

Chromosome : CHR 7: 309,117,99-309,255,15

Locus : 7p14.3

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TYK2 Summary

This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]

TYK2 Details

Gene Symbol : TYK2

Gene Name : Tyrosine kinase 2

Chromosome : CHR 19: 103,805,71-103,505,27

Locus : 19p13.2

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