重组PDZ结构域PDZK7蛋白
交货期：1周
产品别名：Recombinant PDZD7
Recombinant PDZ domain containing 7 protein
Recombinant PDZ domain containing 7 protein
基因名：
产品别名：
背景信息：
PDZD7
产品别名：
DFNB57； PDZK7； PDZD7； PDZ domain containing 7； PDZ domain containing 7； PDZ domain-containing protein 7； deafness, autosomal recessive 57； PDZ结构域PDZK7蛋白；
背景信息：
PDZK7, also known as PDZD7, is a 517 amino acid protein that contains two PDZ (DHR) domains. Encoded by a gene that maps to human chromosome 10q24.31, PDZK7 is conserved in dog, mouse and rat, and exists as three alternatively spliced isoforms. PDZK7 is known to interact with Harmonin, MASS1, USH1G and Usherin. Localizing to nucleus, PDZK7 is expressed in retinal pigment epithelium and inner ear. Biallelic inactivation of PDZK7 can cause non-syndromic hearing impairment and chromosomal aberrations, which are linked to non-syndromic sensorineural deafness. PDZK7 mutations are also linked to Usher syndrome, which is characterized by retinitis pigmentosa and sensorineural deafness, and Alzheimer disease. The gene that encodes PDZK7 maps to human chromosome 10q24.31.
产品发布日期：2026.03.18
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