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PEA15

Synonyms
HMAT1, HUMMAT1H, MAT1, MAT1H, PEA-15, PED, PED-PEA15, PED/PEA15
External resources
Summary
This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,612
Likely benign
367
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on PEA15 gene.

Phenotype class
Patients in 3billion (%)

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