ZFHX1B
Smad-intercating protein 1; SMADIP1; SIP1; zinc finger homeo box 1B
The ZFHX1B gene that encodes Smad-interacting protein-1 (SIP1) and is a member of the delta-EF1/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs (MIM.605568). Locus: 2q22
mutations in the Hirschsprung's disease-mental retardation syndrome associating Hirschsprung's disease with microcephaly, mental retardation, hypertelorism, submucous cleft palate, and short stature (MIM.235730)
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