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Anti-Connexin-26间隙连接蛋白26抗体
点击次数:270发布时间:2012/12/26 8:47:00
更新日期:2024/9/5 14:43:40
所 在 地:其它
产品型号:BY-1715R
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货号:BY-1715R
英文名称:Anti-Connexin-26
中文名称:间隙连接蛋白26抗体
其他名称:cx26; DFNA3; DFNB1; HID; KID; NSRD1; Connexin26; Connexin 26; PPK.
抗体来源:Rabbit
克隆类型:polyclonal
蛋白分子量:predicted molecular weight: 26kDa
纯化方法:affinity purified by Protein A
交叉反应:hu, mo, rat, pig, Rb, cow, hrs, dog, shp, chk
产品介绍:Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family. GJBs (gap junction proteins or connexins) play crucial functional roles associated with these channels. Immunohistochemical staining of human cochlear cells demonstrated high levels of GJB2 expression. Mutations in GJB2 are associated with genetically derived hearing impairments, including autosomal recessive nonsyndromic deafness.Function : One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph.Subcellular Location : Cell membrane. Cell junction > gap junction.Tissue Specificity : Expressed in the heart and fetal cochlea.DISEASE : Defects in GJA1 are the cause of autosomal dominant oculodentodigital dysplasia (ODDD) [MIM:164200]; also known as oculodentoosseous dysplasia. ODDD is a highly penetrant syndrome presenting with craniofacial (ocular, nasal, dental) and limb dysmorphisms, spastic paraplegia, and neurodegeneration. Craniofacial anomalies tipically include a thin nose with hypoplastic alae nasi, small anteverted nares, prominent columnella, and microcephaly. Brittle nails and hair abnormalities of hypotrichosis and slow growth are present. Ocular defects include microphthalmia, microcornea, cataracts, glaucoma, and optic atrophy. Syndactyly type 3 and conductive deafness can occur in some cases. Cardiac abnormalities are observed in rare instances.Defects in GJA1 are the cause of autosomal recessive oculodentodigital dysplasia (ODDD autosomal recessive) [MIM:257850].Similarity : Belongs to the connexin family. Alpha-type (group II) subfamily.间隙连接(Gap junction, GJ)是普遍存在于相邻细胞间的细胞连接方式,是相邻细胞膜上的一种膜蛋白通道结构。间隙连接允许邻近细胞之间的离子,核苷酸和小的调节分子以及药物或它们的代谢物进行转运,细胞通过它所介导的细胞间连接通讯,进行细胞间信息和能量的传递,调控细胞的生长、分化和内环境的稳定,对维持机体的功能发挥重要作用. 间隙连接蛋白26目前主要用于肿瘤方面的研究。