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TMLHE encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Additionally we are shipping Trimethyllysine Hydroxylase, epsilon Antibodies (58) and Trimethyllysine Hydroxylase, epsilon Proteins (7) and many more products for this protein.
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Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother.
Study found 3 mutations in TMLHE to be associated with autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His, and c.1107G>T/p.Glu369Asp.
TMLHE deficiency is common in control males and was not significantly increased in frequency in probands from simplex autism families, however, it was 2.82-fold more frequent in probands from male-male multiplex autism families.
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue
By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants.
C-terminal region of TMLH contains the main determinants for its enzymatic activity including a key H389 residue
TMLH expression is present at E12.5 dpc in the liver, lung and brain, and is then maintained in the postnatal brain with a specific neuronal pattern.
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.
trimethyllysine hydroxylase, epsilon
, 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
, TML dioxygenase
, butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase)