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Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619095

PubChem

R-HSA-5619095

Description

The human gene SLCO2A1 encodes prostaglandin transporter PGT. It is ubiquitously expressed and can transport the protaglandins PGD2, PGE1, PGE2 and PGF2A. This transport may be important for release of newly-formed prostaglandins (PGs) and/or their clearance of prostaglandins from the circulation. Defects in SLCO2A1 can cause hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2; MIM:614441), a rare genodermatosis characterised by pachydermia, digital clubbing, periostosis and affecting more males than females (Castori et al. 2005, Seifert et al. 2012, Diggle et al. 2012, Madruga Dias et al. 2014).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
Q92959	Solute carrier organic anion transporter family member 2A1	OATP2A1 SLC21A2 SLCO2A1	view

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