PDGFA

Chr 7

platelet derived growth factor subunit A

Also known as: PDGF-A, PDGF1

NCBI Gene: 5154 ENSG00000197461 UniProt: P04085

The protein is a growth factor essential for embryonic development, cell proliferation, and migration, with specific roles in lung alveolar development, gastrointestinal tract formation, oligodendrocyte development, and myelination in the spinal cord and cerebellum. Mutations cause autosomal dominant conditions affecting multiple systems during development. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical impact.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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