产品说明
一般描述
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. (provided by RefSeq)
免疫原
AIPL1 (NP_055151.3, 1 a.a. ~ 384 a.a) full-length human protein.
Sequence
MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKAVRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPPPSPGHSLQH
外形
Solution in phosphate buffered saline, pH 7.4
基本信息
NACRES | NA.41 |
产品性质
生物来源 | mouse |
偶联物 | unconjugated |
抗体形式 | purified immunoglobulin |
antibody product type | primary antibodies |
克隆 | polyclonal |
形式 | buffered aqueous solution |
分子量 | antigen ~43.9 kDa |
species reactivity | human |
technique(s) | western blot: 1 μg/mL |
NCBI登记号 | NM_014336.3 |
UniProt登记号 | Q9NZN9 |
运输 | dry ice |
储存温度 | −20℃ |
Gene Information | human ... AIPL1(23746) |
安全信息
储存分类代码 | 13 - Non Combustible Solids |
WGK | WGK 1 |
闪点(F) | Not applicable |
闪点(C) | Not applicable |