Disease-gene associations mined from literature

Literature associating SCRIB and tethered spinal cord syndrome

SCRIB [ENSP00000349486]

Scribbled planar cell polarity protein; Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to synapses. Functions as an activator of Rac GTPase activity; PDZ domain containing

Synonyms:  SCRIB,  H0YDF9,  Q14160,  CRIB1,  H0YDF9p ...

Linkouts:  STRING  Pharos  UniProt  OMIM