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Product Name LOXHD1 Chinese Name 脂氧合酶同源结构域1抗体 Alias DFNB77; FLJ32670; LH2D1; Lipoxygenase homology domain-containing protein 1; Lipoxygenase homology domains 1; LOXH1_HUMAN; LOXHD1. Research Area Cell biology Neurobiology The cell membrane蛋白 Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 222kDa Cellular localization The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human LOXHD1: 1171-1270/1947 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
Involved in hearing. Required for normal function of hair cells in the inner ear.
DISEASE:
Defects in LOXHD1 are the cause of deafness autosomal recessive type 77 (DFNB77) [MIM:613079]. A form of non-syndromic deafness characterized by preserved low-frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.
Similarity:
Contains 14 PLAT domains.
SWISS:
Q8IVV2
Gene ID:
125336
Database links:Entrez Gene: 125336 Human
Omim: 613072 Human
SwissProt: Q8IVV2 Human
Unigene: 345877 Human
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