AQP8

Chr 16

aquaporin 8

Also known as: AQP-8

NCBI Gene: 343 ENSG00000103375 UniProt: O94778 OMIM: 603750

Aquaporin 8 is a water channel protein that facilitates transport of water, hydrogen peroxide, and ammonia across cellular membranes including plasma membranes, mitochondrial membranes, and endoplasmic reticulum in tissues such as liver, intestine, and kidney. The gene shows low constraint against loss-of-function variants (pLI 0.0004, LOEUF 1.12), and no clear disease associations have been established from the available data. The protein plays roles in bile formation, mitochondrial hydrogen peroxide release affecting cholesterol synthesis, and cellular responses to acidosis.

OMIM ResearchSummary from RefSeq, UniProt

Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)