Rabbit anti-Human TMLHE Polyclonal Antibody | anti-TMLHE antibody

TMLHE, NT (TMLHE, TMLH, Trimethyllysine dioxygenase, mitochondrial, Epsilon-trimethyllysine 2-oxoglutarate dioxygenase, Epsilon-trimethyllysine hydroxylase, TML hydroxylase, TML-alpha-ketoglutarate dioxygenase) (AP)

Cat. Num. AAA6356559

• Gene Names: TMLHE; TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130
• Reactivity: Human
• Applications: Western Blot, ELISA
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: TMLHE; Polyclonal Antibody; NT (TMLHE; TMLH; Trimethyllysine dioxygenase; mitochondrial; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase) (AP); TML-alpha-ketoglutarate dioxygenase; anti-TMLHE antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).

• Applicable Applications for anti-TMLHE antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: TMLHE antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 123-153 amino acids from the N-terminal region of human TMLHE.
• Conjugate: AP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(TMLHE Antibody (N-term) western blot analysis in HepG2 cell line lysates (35ug/lane).This demonstrates the TMLHE antibody detected the TMLHE protein (arrow).)

Related Product Information for anti-TMLHE antibody

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.

Product Categories/Family for anti-TMLHE antibody

Antibodies; Enzymes; Oxidase

References

Monfregola, J., et al. Gene 395 (1-2), 86-97 (2007): Monfregola, J., et al. J. Cell. Physiol. 204(3):839-847(2005). Vaz, F.M., et al. J. Biol. Chem. 276(36):33512-33517(2001). Rogner, U.C., et al. Genome Res. 6(10):922-934(1996).

NCBI and Uniprot Product Information

• NCBI GI #: 8922625
• NCBI GeneID: 55217
• NCBI Accession #: NP_060666.1
• NCBI GenBank Nucleotide #: NM_018196.3
• UniProt Accession #: Q9NVH6; Q5TZB5; Q6IA90; Q8TBT0; A8K6M9; B4E3R3
• Molecular Weight: 50,832 Da
• NCBI Official Full Name: trimethyllysine dioxygenase, mitochondrial isoform 1
• NCBI Official Synonym Full Names: trimethyllysine hydroxylase, epsilon
• NCBI Official Symbol: TMLHE
• NCBI Official Synonym Symbols: TMLD; TMLH; BBOX2; AUTSX6; TMLHED; XAP130
• NCBI Protein Information: trimethyllysine dioxygenase, mitochondrial
• UniProt Protein Name: Trimethyllysine dioxygenase, mitochondrial
• UniProt Gene Name: TMLHE
• UniProt Synonym Gene Names: TMLH; TML dioxygenase; TMLD
• UniProt Entry Name: TMLH_HUMAN

NCBI Description

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]

Uniprot Description

TMLHE: Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML). Defects in TMLHE are the cause of epsilon-trimethyllysine hydroxylase deficiency (TMLHED). An inborn error of carnitine biosynthesis associated with an increased risk for developing autistic behavior. Autism is 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. Belongs to the gamma-BBH/TMLD family. 8 isoforms of the human protein are produced by alternative promoter.

Protein type: Mitochondrial; Oxidoreductase; Amino Acid Metabolism - lysine degradation; EC 1.14.11.8

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen; trimethyllysine dioxygenase activity; L-ascorbic acid binding; iron ion binding

Biological Process: negative regulation of oxidoreductase activity; carnitine biosynthetic process

Disease: Epsilon-trimethyllysine Hydroxylase Deficiency