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 this 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)
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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: GC01P151008

Genetics Home Reference: PRUNE1

NCBI Gene: 58497

OMIM: 617413

UniProtKB/Swiss-Prot: Q86TP1

Clinical Significance

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

Gene PRUNE1
Inheritance Pattern Autosomal recessive
Position Chr1:151001420
Transcript NM_021222.1
DNA Change c.933G>A
Protein Change p.Thr311=
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