PRR14

Chr 16

proline rich 14

NCBI Gene: 78994 ENSG00000156858 UniProt: Q9BWN1 OMIM: 617423

This protein tethers heterochromatin to the nuclear lamina during interphase and promotes skeletal muscle differentiation by stimulating MyoD transcription factor activity. PRR14 mutations cause autosomal recessive intellectual disability with hypotonia and poor growth, with affected individuals showing developmental delays from infancy. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]

OMIM 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)

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P/LP submissions

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P/LP missense

0.47

LOEUF

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Mechanism