TMLHE
Function
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML) (PubMed:11431483, PubMed:23092983).
Involvement in disease
Autism, 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 intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amine and polyamine biosynthesis; carnitine biosynthesis.
Sequence Similarities
Belongs to the gamma-BBH/TMLD family.
Tissue Specificity
All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.
Cellular localization
- Mitochondrion matrix
Alternative names
TMLH, TMLHE, Epsilon-trimethyllysine 2-oxoglutarate dioxygenase, Epsilon-trimethyllysine hydroxylase, TML hydroxylase, TML-alpha-ketoglutarate dioxygenase, TML dioxygenase, TMLD