Entity Details

Primary name TMLHE
Entity type gene
Source Source Link

Details

PrimaryID55217
RefseqGeneNG_021318
SymbolTMLHE
Nametrimethyllysine hydroxylase, epsilon
ChromosomeX
LocationXq28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTMLH_HUMAN

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0045329 carnitine biosynthetic process
GO:0050353 trimethyllysine dioxygenase activity
GO:0051354 negative regulation of oxidoreductase activity

Diseases

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Disease IDSourceNameDescription
300872 OMIMAutism, X-linked 6 (AUTSX6)A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation. The disease is caused by variants affecting the gene represented in this entry.