PTER

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

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the PTER gene were identified in a 1-year-old male with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia) (read full description). 

Date of Report

Jun 09, 2021

Full Name

phosphotriesterase related

Location
Chromosome 10 (10p13)
Chromosome-position.png

Function

The PTER gene codes for an enzyme that catalyzes the hydrolysis of phosphotriester molecules (Alimova-Kost et al., 1998).

Database Links

GeneCards: GC10P016436

NCBI Gene: 9317

OMIM: 604446

UniProtKB/Swiss-Prot: Q96BW5

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene PTER
Inheritance Pattern Autosomal recessive
Position chr10:g.16526795A>T & chr10:g.16528477A>G
Transcript NM_030664.4
DNA Change c.412A>T & c.559A>G
Protein Change p.Arg138Trp & p.Thr187Ala
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