Product Datasheet
PHYH Antibody
Catalog Number: 36694
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#: O14832
NCBI Gene ID: 5264
Gene Accssion: BC029512/O14832
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Fusion protein corresponding to a region derived from internal residues of human phytanoyl-CoA 2-hydroxylase
- appl_detail:
- Western blotting: 1:500-1:2000
Immunohistochemistry: 1:25-1:100
- other_names:
- RD; LN1; PAHX; LNAP1; PHYH1
- Purification:
- Antigen affinity purification.
- Specificity:
- The antibody detects endogenous levels of total PHYH protein.
- Background:
- This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
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