PTCD3

Description

The PTCD3 (pentatricopeptide repeat domain 3) is a protein-coding gene located on chromosome 2.

PTCD3 is a mitochondrial RNA-binding protein that plays a crucial role in mitochondrial translation.

PTCD3 is also known as COXPD51, MRP-S39, mS39.

Associated Diseases

Combined oxidative phosphorylation deficiency 51

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Comprehensive carrier screening

WES Whole Exome Sequencing

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