ZFHX1B
2q22
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
Pathology
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)
See also
Hirschsprung disease genes
| RET | GDNF | NTRN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |