Recombinant Human Trimethyllysine dioxygenase, mitochondrial (TMLHE)

Uniprot Id

Q9NVH6

Target Species

Human

Target Name

TMLHE

Target Full Name

Trimethyllysine dioxygenase, mitochondrial

Target Function

Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).

Target Involvement

Autism, X-linked 6 (AUTSX6)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Gamma-BBH/TMLD family

Target Tissue Specificity

All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.

Target Research Area

Metabolism

Target Synonyms

AUTSX6; BBOX2; Butyrobetaine (gamma) 2 oxoglutarate dioxygenase (gamma butyrobetaine hydroxylase) 2; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; FLJ10727; TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; TMLH; TMLH_HUMAN; TMLHE; TMLHED; Trimethyllysine dioxygenase, mitochondrial; Trimethyllysine hydroxylase epsilon; XAP130

Target Background

This gene encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Carnitine play an essential role in the transport of activated fatty acids across the inner mitochondrial membrane. The encoded protein converts trimethyllysine into hydroxytrimethyllysine. A pseudogene of this gene is found on chromosome X. Alternate splicing results in multiple transcript variants.