EFTUD2 : elongation factor Tu GTP binding domain containing 2

Description

The EFTUD2 (elongation factor Tu GTP binding domain containing 2) is a protein-coding gene located on chromosome 17.

The EFTUD2 gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules.

The EFTUD2 gene is essential for the process of pre-mRNA splicing, a critical step in the production of proteins. It acts as a component of the spliceosome, a complex molecular machine responsible for removing non-coding regions (introns) from pre-mRNA. EFTUD2 is involved in various stages of splicing, including the pre-catalytic, catalytic, and post-catalytic steps. It is a key component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, which are essential building blocks of the spliceosome. EFTUD2 also plays a role in the minor spliceosome, a specialized splicing machinery that handles U12-type introns. It interacts with various proteins, including CRIPT, ERBB4, PRPF8, PIH1D1, RPAP3, URI1, ZNHIT2, NRDE2, FAM50A, and UBL5, highlighting its diverse roles within the spliceosome and its interactions with other cellular components.

EFTUD2 is also known as MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing