Entrez 55217 | Ensembl ENSG00000185973 | |
Aliases TMLHE, AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130, D430017M14Rik, trimethyllysine hydroxylase, epsilon External IDs MGI: 2180203 HomoloGene: 21853 GeneCards: TMLHE | ||
Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the TMLHE gene in chromosome X.
Contents
Structure
The TMHLE gene is located at the extreme end of the Xq28 region with high genomic instability, and encodes a protein trimethyllysine dioxygenase, a , Fe2+ and 2-oxoglytarate dependen non-heme-ferrous iron hydrolase localized to the mitochondrial matrix.
Function
The trimethyllysine dioxygenase enzyme catalyzes the first step in the carnitine biosynthesis pathway, which is part of amine biosynthesis. Carnitine is a molecule that play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane where they are metabolized. The encoded protein converts trimethyllysine into hydroxytrimethyllysine with the reaction (EC 1.14.11.8):
N6,N6,N(6)-trimethyl-L-lysine + 2-oxoglutarate + O2 = 3-hydroxy-N6,N6,N(6)-trimethyl-L-lysine + succinate + CO2.
and requires iron and L-ascorbate as co-factors.
Clinical Significance
Mutations in the THLHE gene causes Epsilon-trimethyllysine hydroxylase deficiency (TMLHED), an inborn error of metabolism in carnitine biosynthesis, which is increased with risks for developing autism-related behaviours and Autism spectrum disorders