The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
WB: 1/500 - 1/1000. Detects bands of approximately 63, 40 and 48 kDa (predicted molecular weight: 63 kDa).
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
機能Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
組織特異性Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.
関連疾患Defects in CERKL are the cause of retinitis pigmentosa type 26 (RP26) [MIM:608380]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP26 inheritance is autosomal recessive.
配列類似性Contains 1 DAGKc domain.
発生段階Expressed in fetal lung, kidney and brain.
翻訳後修飾Phosphorylated on serine residues.
細胞内局在Cytoplasm. Nucleus > nucleolus. Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli and Cytoplasm. Nucleus > nucleolus. Golgi apparatus > trans-Golgi network. Endoplasmic reticulum.