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- Table of Contents

Facts about Trimethyllysine dioxygenase, mitochondrial.
| Human | |
|---|---|
| Gene Name: | TMLHE |
| Uniprot: | Q9NVH6 |
| Entrez: | 55217 |

| Belongs to: |
|---|
| gamma-BBH/TMLD family |

BBOX2TML-alpha-ketoglutarate dioxygenase; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetainehydroxylase) 2; EC 1.14.11.8; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; FLJ10727; TML dioxygenase; TMLD; TMLHTML hydroxylase; trimethyllysine dioxygenase, mitochondrial; trimethyllysine hydroxylase, epsilon; XAP130
Mass (kDA):
49.518 kDA

| Human | |
|---|---|
| Location: | Xq28 |
| Sequence: | X; NC_000023.11 (155489011..155612952, complement) |
All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.
Mitochondrion matrix.





PMID: 11431483 by Vaz F.M., et al. Molecular and biochemical characterization of rat epsilon-N- trimethyllysine hydroxylase, the first enzyme of carnitine biosynthesis.
PMID: 15754339 by Monfregola J., et al. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting.