SAB1407995
Anti-DHDDS antibody produced in mouse
purified immunoglobulin, buffered aqueous solution
Synonym(s):
CIT, CPT, DS, FLJ13102, HDS
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
WB
Citations:
3
biological source
mouse
conjugate
unconjugated
antibody form
purified immunoglobulin
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
mol wt
antigen ~34.3 kDa
species reactivity
human
technique(s)
western blot: 1 μg/mL
NCBI accession no.
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... DHDDS(79947)
General description
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
Immunogen
DHDDS (AAH04117.1, 1 a.a. ~ 294 a.a) full-length human protein.
Sequence
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
Sequence
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
Biochem/physiol Actions
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.
Physical form
Solution in phosphate buffered saline, pH 7.4
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Storage Class
10 - Combustible liquids
wgk
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
Regulatory Information
常规特殊物品
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Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.
Lam BL
Advances in Experimental Medicine and Biology, 801, 165-170 (2014)
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
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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