Recombinant Full Length Human LOXHD1 Protein, GST-tagged

• Cat.No.: LOXHD1-5962HF
• Product Overview: Human LOXHD1 full-length ORF ( AAH47720.1, 1 a.a. - 512 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Molecular Mass: 85.1 kDa
• Protein Length: 512 amino acids
• AA Sequence: MTVWTGDVVGGGTDSNIFMTLYGIN GSTEEMQLDKKKARFEREQNDTFIM EILDIAPFTKMRIRIDGLGSRPEWF LERILLKNMNTGDLTMFYYGDWLSQ RKGKKTLVCEMCAVIDEEEMMEWTS YTVAVKTSDILGAGTDANVFIIIFG ENGDSGTLALKQSANWNKFERNNTD TFNFPDMLSLGHLCKLRVWHDNKGI FPGWHLSYVDVKDNSRDETFHFQCD CWLSKSEGDGQTVRDFACANNKICD ELEETTYEIVIETGNGGETRENVWL ILEGRKNRSKEFLMENSSRQRAFRK GTTDTFEFDSIYLGDIASLCVGHLA REDRFIPKRELVWHVKTITITEMEY GNVYFFNCDCLIPLKRKRKYFKVFE VTKTTESFASKVQSLVPVKYEVIVT TGYEPGAGTDANVFVTIFGANGDTG KRELKQKMRNLFERGSTDRFFLETL ELGELRKVRLEHDSSGYCSGWLVEK VEVTNTSTGVATIFNCGRWLDKKRG DGLTWRDLFPSV
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: LOXHD1 lipoxygenase homology domains 1 [ Homo sapiens (human) ]
• Official Symbol: LOXHD1
• Synonyms: LOXHD1; lipoxygenase homology domains 1; LH2D1; DFNB77; lipoxygenase homology domain-containing protein 1
• Gene ID: 125336
• mRNA Refseq: NM_001145472
• Protein Refseq: NP_001138944
• MIM: 613072
• UniProt ID: Q8IVV2