TMLHE

55217192289ENSG00000185973ENSMUSG00000079834Q9NVH6Q91ZE0NM_001184797NM_018196NM_138758NP_001171726NP_060666NP_620097Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the TMLHE gene in chromosome X. Mutations in the TMLHE gene resulting in carnitine biosynthesis disruption have been associated with autism symptoms. Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the TMLHE gene in chromosome X. Mutations in the TMLHE gene resulting in carnitine biosynthesis disruption have been associated with autism symptoms. 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 dependent non-heme-ferrous iron hydrolase localized to the mitochondrial matrix. 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. Mutations in the THLHE gene causes Epsilon-trimethyllysine hydroxylase deficiency (TMLHED), an inborn error of metabolism in carnitine biosynthesis, which may increase the risks of developing neurodevelopmental disorders, autism-related behaviors, and Autism spectrum disorders. THLHE has been shown to have 14 binary protein-protein interactions including 12 co-complex interactions. THLHE appears to interact with SUGCT.