ENY2

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.

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

A change in this gene was identified in a female, age 27, with a progeria-like syndrome (read full description).

Date of Report

Jun 27, 2019

Full Name

ENY2 transcription and export complex 2 subunit

Location

Chromosome 8 (8q23.1)

Function

The ENY2 gene is thought to play a role in telomere length maintenance (Galán et al. 2018).

Database Links

GeneCards: ENY2

NCBI Gene: 56943

UniProtKB/Swiss-Prot: Q9NPA8

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene ENY2

Inheritance Pattern Unknown

Position (hg19) chr8:g.110351554 _110351555del

Transcript NM_020189.5

DNA Change c.89_90del

Protein Change p.Lys30ArgfsTer6

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