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Key Documents

SAB1407995

Sigma-Aldrich

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

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

Quality Level

100

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.

BC004117.2

UniProt accession no.

Q86SQ9

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

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 Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

Search for Certificates of Analysis (COA) by entering the products Lot/Batch Number. Lot and Batch Numbers can be found on a product’s label following the words ‘Lot’ or ‘Batch’.

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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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