生物来源
mouse
质量水平
偶联物
unconjugated
抗体形式
purified immunoglobulin
抗体产品类型
primary antibodies
克隆
polyclonal
形式
buffered aqueous solution
分子量
antigen ~34.3 kDa
种属反应性
human
技术
western blot: 1 μg/mL
NCBI登记号
UniProt登记号
运输
dry ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... DHDDS(79947)
一般描述
Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins.[supplied by OMIM
免疫原
DHDDS (AAH04117.1, 1 a.a. ~ 294 a.a) full-length human protein.
Sequence
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
Sequence
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
生化/生理作用
Dehydrodolichyl diphosphate synthase subunit (DHDDS) has a role in the final steps of dolichol-pyrophosphate pathway. It is involved in chaining of 17–21 isoprene units. Mutations in the gene encoding this protein have been associated with retinitis pigmentosa.
外形
Solution in phosphate buffered saline, pH 7.4
WGK
WGK 1
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
新产品
Lina Zelinger et al.
American journal of human genetics, 88(2), 207-215 (2011-02-08)
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with autosomal-recessive RP (arRP), we identified a shared 1.7 Mb homozygous region on
Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.
Lam BL
Advances in Experimental Medicine and Biology, 801, 165-170 (2014)
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Zuchner S
American Journal of Human Genetics, 88(2), 201-206 (2011)
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