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Trimethyllysine Hydroxylase, epsilon (TMLHE) ELISA Kits

TMLHE encodes the protein trimethyllysine dioxygenase which is the first enzyme in the carnitine biosynthesis pathway. Additionally we are shipping Trimethyllysine Hydroxylase, epsilon Antibodies (51) and Trimethyllysine Hydroxylase, epsilon Proteins (7) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
TMLHE 55217 Q9NVH6
Anti-Mouse TMLHE TMLHE 192289 Q91ZE0
TMLHE 170898 Q91ZW6
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Top Trimethyllysine Hydroxylase, epsilon ELISA Kits at antibodies-online.com

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Catalog No. Reactivity Sensitivity Range Quantity Supplier Delivery Price Details
Rat
96 Tests Log in to see 16 to 21 Days
$999.43
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Human
96 Tests Log in to see 16 to 21 Days
$999.43
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More ELISA Kits for Trimethyllysine Hydroxylase, epsilon Interaction Partners

Human Trimethyllysine Hydroxylase, epsilon (TMLHE) interaction partners

  1. 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.

  2. 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.

  3. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

  4. C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue

  5. By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants.

Mouse (Murine) Trimethyllysine Hydroxylase, epsilon (TMLHE) interaction partners

  1. C-terminal region of TMLH contains the main determinants for its enzymatic activity including a key H389 residue

  2. 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.

Trimethyllysine Hydroxylase, epsilon (TMLHE) Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with TMLHE

  • trimethyllysine hydroxylase, epsilon (TMLHE) antibody
  • trimethyllysine hydroxylase, epsilon (tmlhe) antibody
  • trimethyllysine hydroxylase, epsilon (LOC100230324) antibody
  • trimethyllysine hydroxylase, epsilon (Tmlhe) antibody
  • AUTSX6 antibody
  • Bbox2 antibody
  • D430017M14Rik antibody
  • TMLD antibody
  • Tmlh antibody
  • TMLHED antibody
  • XAP130 antibody

Protein level used designations for TMLHE

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 , TMLD , butyrobetaine (gamma), 2-oxoglutarate dioxygenase 2 (gamma-butyrobetaine hydroxylase)

GENE ID SPECIES
465953 Pan troglodytes
481090 Canis lupus familiaris
703711 Macaca mulatta
100124877 Xenopus (Silurana) tropicalis
100189568 Xenopus laevis
100230324 Taeniopygia guttata
100338782 Oryctolagus cuniculus
100595389 Nomascus leucogenys
55217 Homo sapiens
192289 Mus musculus
170898 Rattus norvegicus
535630 Bos taurus
422296 Gallus gallus
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