TMLHE Products

Description

Epsilon-N-trimethyllysine hydroxylase (EC 1.14.11.8) catalyzes the conversion of epsilon-N-trimethyllysine to beta-hydroxy-N-epsilon-trimethyllysine in the first step of L-carnitine biosynthesis (Vaz et al., 2001 (PubMed 11431483)).(supplied by OMIM)

Bioinformatics

Entrez	55217 Human
Uniprot	Q9NVH6 Human AAH25269.1 Human NP_060666 Human
Product By Gene ID	55217
Alternate Names	TML dioxygenase Epsilon-trimethyllysine hydroxylase trimethyllysine dioxygenase, mitochondrial Epsilon-trimethyllysine 2-oxoglutarate dioxygenase butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetainehydroxylase) 2 XAP130 EC 1.14.11.8 FLJ10727 BBOX2TML-alpha-ketoglutarate dioxygenase TMLHTML hydroxylase TMLD trimethyllysine hydroxylase, epsilon

Diseases related to TMLHE

Discover more about diseases related to TMLHE.

Autistic Disorder
Dysequilibrium Syndrome
Hereditary Diseases
Inborn Errors Of Metabolism
Blood Coagulation Disorders
Genetic Diseases, X-linked
Myopia
Hemophilia A
Autism Spectrum Disorders
Visual Impairment

Pathways for TMLHE

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Transport
Lactation
Fatty Acid Oxidation

Research Areas for TMLHE

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DNA Repair
Mismatch Repair

Bioinformatics Tool for TMLHE

Discover related pathways, diseases and genes to TMLHE. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.