PRUNE1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the PRUNE1 gene was identified in a male, age 7, with global developmental delay, hypotonia, muscle spasticity and regression (read full description).

Date of Report

Jul 15, 2020

Full Name

prune exopolyphosphatase 1

Location

Chromosome 1 (1q21.3)

Function

PRUNE1 codes for a member of the DHH phosphoesterase family (Reymond et al., 1999). It is highly expressed in the fetal brain and is thought to aid in cell proliferation, migration, and motility by interacting with both signaling and cytoskeleton proteins (Zollo et al., 2017).

Database Links

GeneCards: PRUNE1

NCBI Gene: 58497

OMIM: 617413

UniProtKB/Swiss-Prot: Q86TP1

Clinical Significance

A change in this gene was identified in a UDN participant.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
PRUNE1	Autosomal recessive	chr1:g.151001420G>A	NM_021222.1	c.933G>A	p.Thr311=

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