This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene.
Immunogen Information
Immunogen
A synthetic peptide of human PCYT1A
Gene ID
5130
Swissprot
P49585
Synonyms
PCYT1ACCTACTCTACTPCTPCYT1SMDCRD
Observed MW
37KDa
Applications
Reactivity
Human,Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.