TMLHE Chromosome X
Trimethyllysine hydroxylase, epsilon
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What This Gene Does
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.[provided by RefSeq, May 2010]
Associated Conditions (8)
Epsilon-trimethyllysine hydroxylase deficiency
Thyroid cancer
nonmedullary
1
Cerebellar vermis hypoplasia
Corpus callosum
agenesis of
Congenital cerebellar hypoplasia
Key Variants
RS782792356
Conflicting classifications of pathogenicity
Epsilon-trimethyllysine hydroxylase deficiency, Thyroid cancer, nonmedullary
Health Risk
RS2124340926
Likely pathogenic
Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
Health Risk
RS782785654
Likely pathogenic
Cerebellar vermis hypoplasia, Corpus callosum, agenesis of
Health Risk
RS782624357
Pathogenic
Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
Health Risk
RS869320708
risk factor
Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782792356 | Health Risk | Conflicting classifications of pathogenicity | Epsilon-trimethyllysine hydroxylase deficiency, Thyroid cancer, nonmedullary |
| RS2124340926 | Health Risk | Likely pathogenic | Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency |
| RS782785654 | Health Risk | Likely pathogenic | Cerebellar vermis hypoplasia, Corpus callosum, agenesis of |
| RS782624357 | Health Risk | Pathogenic | Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency |
| RS869320708 | Health Risk | risk factor | Epsilon-trimethyllysine hydroxylase deficiency, Epsilon-trimethyllysine hydroxylase deficiency |