蛋白质/抗原/多肽 >> 重组蛋白
重组FAM161A蛋白
半岛bd体育手机客户端 介绍
基因名:
Fam161a 半岛bd体育手机客户端 别名: 4930430E16Rik; Fam161a; family with sequence similarity 161, member A; family with sequence similarity 161, member A; protein FAM161A; FAM161A蛋白; 背景信息:
Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the mot abundant in all tissues tested. Involvement in disease:Defects in FAM161A are the cause of retinitis pigmentosa type 28 (RP28) . A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
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