Transcriptional repressor. Involved in the generation and migration of neural crest cells.
Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle.
Involvement in disease
Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Belongs to the snail C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers.