PF4V1

Chr 4

platelet factor 4 variant 1

Also known as: CXCL4L1, CXCL4V1, PF4-ALT, PF4A, SCYB4V1

NCBI Gene: 5197 ENSG00000109272 UniProt: P10720

The protein is a chemokine that inhibits angiogenesis and endothelial cell chemotaxis. Mutations cause autosomal recessive primary familial brain calcification, a neurodegenerative disorder characterized by bilateral calcification of the basal ganglia and other brain regions. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.91

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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