Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Involvement in disease
Defects in HOXA13 are the cause of hand-foot-genital syndrome (HFGS) [MIM:140000]; also known as hand-foot-uterus syndrome. The clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. Defects in HOXA13 are the cause of Guttmacher syndrome (GUTTS) [MIM:176305]. Guttmacher syndrome is a dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails.
Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain.