Rabbit LRTOMT Polyclonal Antibody | anti-LRTOMT antibody

Anti-LRTOMT Antibody

Cat. Num. AAA1752876

• Gene Names: LRTOMT; DFNB63; LRRC51; CFAP111
• Reactivity: Human, Mouse, Rat
• Applications: Western Blot, Immunohistochemistry
• Purity: Immunogen Affinity Purified
• Synonyms: LRTOMT; Polyclonal Antibody; Anti-LRTOMT Antibody; Transmembrane O-methyltransferase; Catechol O-methyltransferase 2; Protein LRTOMT2; COMT2; anti-LRTOMT antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: No cross reactivity with other proteins.
• Purity/Purification: Immunogen Affinity Purified
• Form/Format: Lyophilized; Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg NaN3.
• Sequence Length: 291

• Applicable Applications for anti-LRTOMT antibody: Western Blot (WB), Immunohistochemistry (IHC) Paraffin
• Application Notes: WB: 0.5-1ug/mL; IHC-P: 1-2ug/mL; Tested Species: In-house tested species with positive results. By Heat: Boiling the paraffin sections in 10mM citrate buffer, pH6.0, for 20mins is required for the staining of formalin/paraffin sections. Other applications have not been tested.
• Immunogen: A synthetic peptide corresponding to a sequence of human LRTOMT (RLLTVERDPRTAAVAEKLIRLAGFDEHMVEL).
• Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500mug/ml.
• Relevant Detection Systems: MyBioSource recommends Enhanced Chemiluminescent Kit with anti-Rabbit IgG (MBS176460) for Western blot, and HRP Conjugated anti-Rabbit IgG Super Vision Assay Kit (MBS176453) for IHC(P).
• Preparation and Storage: Store at -20 degree C for one year. After reconstitution, store at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing.

Related Product Information for anti-LRTOMT antibody

Description: Rabbit IgG polyclonal antibody for LRTOMT detection. Tested with WB, IHC-P in Human; Mouse; Rat.

Background: Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene. It is mapped to 11q13.4. This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness.

References

1. Charif M, Bounaceur S, Abidi O, Nahili H, Rouba H, Kandil M, Boulouiz R, Barakat A (December 2012). "The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population". Molecular Biology Reports. 39 (12): 11011-6. 2. "Entrez Gene: Leucine rich transmembrane and O-methyltransferase domain containing" 3. Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C (2014). "Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness". PLoS One. 9 (6): e99797.

NCBI and Uniprot Product Information

• NCBI GI #: 223718159
• NCBI GeneID: 220074
• NCBI Accession #: NP_001138780.1
• NCBI GenBank Nucleotide #: NP_001138780.1
• UniProt Accession #: Q8WZ04; Q96E66
• NCBI Official Full Name: transmembrane O-methyltransferase isoform LRTOMT2a
• NCBI Official Synonym Full Names: leucine rich transmembrane and O-methyltransferase domain containing
• NCBI Official Symbol: LRTOMT
• NCBI Official Synonym Symbols: DFNB63; LRRC51; CFAP111
• NCBI Protein Information: transmembrane O-methyltransferase; leucine-rich repeat-containing protein 51
• UniProt Protein Name: Transmembrane O-methyltransferase
• UniProt Gene Name: LRTOMT
• UniProt Entry Name: TOMT_HUMAN

NCBI Description

This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]

Uniprot Description

LRTOMT: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Required for auditory function. Defects in LRTOMT are the cause of deafness autosomal recessive type 63 (DFNB63). A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Belongs to the methyltransferase superfamily. Catechol-O-methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Methyltransferase; Cell development/differentiation; Membrane protein, integral; EC 2.1.1.6

Chromosomal Location of Human Ortholog: 11q13.4

Cellular Component: cytoplasm; integral to membrane

Molecular Function: catechol O-methyltransferase activity

Biological Process: auditory receptor cell development; catecholamine catabolic process; methylation; neurotransmitter catabolic process; sensory perception of sound

Disease: Deafness, Autosomal Recessive 63