DISEASES

Disease-gene associations mined from literature

Literature associating PRICKLE1 and progressive myoclonus epilepsy 4

PRICKLE1 [ENSP00000345064]

REST/NRSF-interacting LIM domain protein 1; Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor; LIM domain containing

Synonyms:  PRICKLE1,  A0A024R0W7,  F8VUG8,  F8W1J1,  F8W1Q8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM