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 MPEG1 gene was identified in a female, age 25 with early-onset hearing loss, frequent fevers and flares of pain with blurred vision and vomiting, systemic itching, delayed gastric emptying (gastroparesis), recurrent infections, and reduced sweating (read full description).

Date of Report

Aug 19, 2021

Full Name

macrophage expressed 1

Chromosome 11 (11q12.1)


The MPEG1 gene encodes for a pore-forming protein which is part of the ‘Membrane Attack Complex/Perforin’ (MACPF) superfamily. The protein acts as a pore-forming immune effector against intracellular and extracellular pathogens (McCormack et al., 2017Merselis et al., 2020Bayly-Jones et al., 2020).

Database Links

GeneCards: MPEG1

NCBI Gene: 219972

OMIM: 610390

UniProtKB/Swiss-Prot: Q2M385

Clinical Significance

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

Gene MPEG1
Inheritance Pattern Unknown
Position (hg19) chr11:g.58979049G>T
Transcript NM_001039396.1
DNA Change c.1290C>A
Protein Change p.Tyr430Ter
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