Human leucine rich transmembrane and 0-methyltransferase domain containing ELISA Kit | LRTOMT elisa kit

Human Leucine-rich repeat-containing protein 51, LRTOMT ELISA Kit

Cat. Num. AAA9331644

• Gene Names: LRTOMT; DFNB63; LRRC51; CFAP111
• Reactivity: Human
• Synonyms: leucine rich transmembrane and 0-methyltransferase domain containing; Human Leucine-rich repeat-containing protein 51; LRTOMT ELISA Kit; Human Leucine-rich repeat-containing protein 51 (LRTOMT) ELISA kit; COMT2; DFNB63; FLJ52451; LRRC51; LRTOMT1; LRTOMT2; OTTHUMP00000206871; leucine rich repeat containing 51; LRTOMT elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 223718151
• NCBI GeneID: 220074
• NCBI Accession #: NP_001138779.1
• NCBI GenBank Nucleotide #: NM_001145307.4
• UniProt Accession #: Q96E66; B2R7X1; B6CZ35; B6CZ36; B6CZ37; B6CZ38; B6CZ39; B7Z5I4; Q8WZ04
• Molecular Weight: 22,206 Da
• NCBI Official Full Name: leucine-rich repeat-containing protein 51 isoform LRTOMT1b
• 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: leucine-rich repeat-containing protein 51; transmembrane O-methyltransferase; leucine rich transmembrane and 0-methyltransferase domain containing
• UniProt Protein Name: Leucine-rich repeat-containing protein 51
• UniProt Gene Name: LRTOMT
• UniProt Synonym Gene Names: LRRC51
• UniProt Entry Name: LRC51_HUMAN

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

LRRC51: 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]

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 11q13.4

Cellular Component: cytoplasm; integral to membrane

Molecular Function: catechol O-methyltransferase activity

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

Disease: Deafness, Autosomal Recessive 63