LRTOMT blocking peptide
LRTOMT Blocking Peptide (N-term)
NCBI and Uniprot Product Information
NCBI Description
This gene includes two transcript forms. The short form has one open reading frame (ORF), which encodes the leucine-rich repeats (LRR)-containing protein of unknown function. This protein is called LRTOMT1 or LRRC51. The long form has two alternative ORFs; the upstream ORF has the same translation start codon as used in the short form and the resulting transcript is a candidate for nonsense-mediated decay, and the downstream ORF encodes a different protein, which is a transmembrane catechol-O-methyltransferase and is called LRTOMT2, TOMT or COMT2. The COMT2 is essential for auditory and vestibular function. Defects in the COMT2 can cause nonsyndromic deafness. Alternatively spliced transcript variants from each transcript form have been found for this gene. [provided by RefSeq, Sep 2012]
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: EC 2.1.1.6; Membrane protein, integral; Methyltransferase; Cell development/differentiation
Chromosomal Location of Human Ortholog: 11q13.4
Molecular Function: catechol O-methyltransferase activity
Biological Process: auditory receptor cell development; catecholamine catabolic process; sensory perception of sound
Disease: Deafness, Autosomal Recessive 63
Research Articles on LRTOMT
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Product Notes
The LRTOMT lrtomt (Catalog #AAA9229769) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "LRTOMT, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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