Entity Details
| Primary name |
TMLH_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9NVH6 |
| EntryName | TMLH_HUMAN |
| FullName | Trimethyllysine dioxygenase, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 421 |
| SequenceStatus | complete |
| DateCreated | 2002-06-20 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion matrix |
Domains
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| Domain | Name | Category | Type |
| IPR003819 | TauD/TfdA-like domain | Domain | Domain |
| IPR010376 | Gamma-butyrobetaine hydroxylase-like, N-terminal | Domain | Domain |
| IPR012776 | Trimethyllysine dioxygenase | Family | Family |
| IPR038492 | GBBH-like, N-terminal domain superfamily | Family | Homologous superfamily |
| IPR042098 | Taurine dioxygenase TauD-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 300872 | OMIM | 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 mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00126 | Ascorbic acid | Drugbank | small molecule |
Interactions
2 interactions