| Gene Symbol |
TMLHE
|
| Entrez Gene |
55217
|
| Alt Symbol |
AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
trimethyllysine hydroxylase, epsilon
|
| Other Description |
TML hydroxylase|TML-alpha-ketoglutarate dioxygenase|butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2|epsilon-trimethyllysine 2-oxoglutarate dioxygenase|epsilon-trimethyllysine hydroxylase|trimethyllysine dioxygenase, mitochondrial
|
| Swissprots |
Q9NVH6 A8K6M9 Q8TBT0 Q6IA90 Q5TZB5 B4E3R3
|
| Accessions |
EAW55873 EAW55874 EAW55875 Q9NVH6 AF373407 AAL01871 AK001589 BAA91775 AK291694 BAF84383 AK304830 BAG65575 AK310667 AM393196 CAL38074 BC009673 BC025269 AAH25269 CR457265 CAG33546 DA323339 DB174485 XM_011531182 XP_011529484 XR_247318 NM_001184797 NP_001171726 NM_018196 NP_060666
|
| Function |
Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
|
| Subcellular Location |
Mitochondrion matrix {ECO:0000269|PubMed:15754339}.
|
| Tissue Specificity |
All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle. {ECO:0000269|PubMed:15754339, ECO:0000269|PubMed:17408883}.
|
| Top Pathways |
Lysine degradation
|
![Western Blot: TMLHE Overexpression Lysate (Adult Normal) [NBP2-06856] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for TMLHE.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/8623_TMLHE%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBP2-06856-img0001.jpg)