CD63 Polyclonal Antibody, 20ul[BT-AP02030] RNA Tools The primary defect in NCL

The primary defect in NCL disorders is thought to be associated with lysosomal storage function

COL11A1 encodes one of the two alpha chains of type XI collagen

but is not detected in normal kidney or most other normal tissues

and a short C-terminal cytoplasmic tail

CD63 Polyclonal Antibody, 20ul[BT-AP02030] RNA Tools The primary defect in NCLCNKSR1 encodes connector enhancer of kinase suppressor of Ras 1 containing several motifs involved in protein protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants.