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ZFHX1B

2q22

Monday 6 October 2003

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