HOXA13
Function
Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
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
Hand-foot-genital syndrome
HFG
A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.
None
The disease is caused by variants affecting the gene represented in this entry.
Guttmacher syndrome
GUTTS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Abd-B homeobox family.
Cellular localization
- Nucleus
Alternative names
HOX1J, HOXA13, Homeobox protein Hox-A13, Homeobox protein Hox-1J