PRR4

Chr 12

proline rich 4

Also known as: LPRP, PROL4

This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEctodermal dysplasia-syndactyly syndrome 1
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRR4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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