DLX4
Function
May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.
Involvement in disease
Non-syndromic orofacial cleft 15
OFC15
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the distal-less homeobox family.
Tissue Specificity
Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver.
Cellular localization
- Nucleus
Alternative names
BP1, DLX7, DLX8, DLX9, DLX4, Homeobox protein DLX-4, Beta protein 1, Homeobox protein DLX-7, Homeobox protein DLX-8