TMLHE
Description
The TMLHE (trimethyllysine hydroxylase, epsilon) is a protein-coding gene located on chromosome X.
The TMLHE gene, located on chromosome X, encodes a mitochondrial enzyme called trimethyllysine dioxygenase. This enzyme plays a critical role in carnitine biosynthesis, a pathway essential for the transport of fatty acids within cells. Mutations in the TMLHE gene can lead to carnitine biosynthesis disruption, which has been linked to autism symptoms.
Structure: TMLHE is located in the mitochondrial matrix, where it acts as a non-heme-ferrous iron hydrolase.
Function: TMLHE catalyzes the first step in the carnitine biosynthesis pathway, converting trimethyllysine (TML) into hydroxytrimethyllysine (HTML). This conversion requires iron and L-ascorbate as cofactors.
Clinical Significance: Mutations in the TMLHE gene can cause epsilon-trimethyllysine hydroxylase deficiency (TMLHED), an inborn error of metabolism affecting carnitine biosynthesis. This deficiency can increase the risk of neurodevelopmental disorders, autism-related behaviors, and autism spectrum disorders.
Interactions: TMLHE is known to interact with 14 other proteins, including 12 co-complex interactions.
TMLHE is also known as AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130.
