TMLHE

TMLHE
Identifiers
Aliases	TMLHE, AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130, D430017M14Rik, trimethyllysine hydroxylase, epsilon
External IDs	OMIM: 300777; MGI: 2180203; HomoloGene: 21853; GeneCards: TMLHE; OMA:TMLHE - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	155,719,098 bp
RNA expression pattern
	Top expressed in
	skeletal muscle tissue; ; muscle of thigh; ; gastrocnemius muscle; ; blood; ; left ventricle; ; monocyte; ; islet of Langerhans; ; ventricular zone; ; ganglionic eminence; ; smooth muscle tissue;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	iron ion binding; oxidoreductase activity; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; metal ion binding; dioxygenase activity; trimethyllysine dioxygenase activity; protein binding;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	negative regulation of oxidoreductase activity; carnitine biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	55217
	192289
	ENSG00000185973
	ENSMUSG00000079834
	Q9NVH6
	Q91ZE0
	NM_001184797; NM_018196
	NM_138758
	NP_001171726; NP_060666
	NP_620097
	Wikidata
View/Edit Human	View/Edit Mouse

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.