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- accession：NM_001173129
- 基因别名：LOXHD1
- 基因描述：Homo sapiens lipoxygenase homology domains 1 (LOXHD1), transcript variant 4, mRNA.
- 载体：现货载体
- CDS区长度：1374
- 翻译后氨基酸长度：457
- TranscriptVariant：This variant (4) is missing many exons from the 5' end, and differs at the 5' and 3' ends compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and a shorter isoform (4) compared to isoform 1.
- 基因简介：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]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
