HOXC13
Function
Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).
Involvement in disease
Ectodermal dysplasia 9, hair/nail type
ECTD9
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia).
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
HOX3G, HOXC13, Homeobox protein Hox-C13, Homeobox protein Hox-3G