TSEN34 : tRNA splicing endonuclease subunit 34

Description

TSEN34, also known as transmembrane emp24 domain-containing protein 34, is a gene encoding a protein involved in the trafficking of proteins within cells. It plays a critical role in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC), a crucial part of the secretory pathway. TSEN34 protein interacts with other proteins to form a complex that facilitates the movement of newly synthesized proteins from the ER to the Golgi apparatus, where they are further processed and sorted for their final destinations. This gene is highly conserved across various species, highlighting its importance in basic cellular functions.

Associated Diseases

• Congenital Disorder of Glycosylation Type Ia (CDG Ia)
• Spinal Muscular Atrophy (SMA)
• Neurodevelopmental Disorders
• Intellectual Disability

Did you know?

Mutations in the TSEN34 gene can lead to a disruption of protein transport within cells, contributing to a variety of developmental and neurological disorders.