HOXC13

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq]

Full Name

homeobox C13

Function

Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).

Biological Process

Anatomical structure morphogenesis Source: ProtInc
Anterior/posterior pattern specification Source: Ensembl
Hair follicle development Source: Ensembl
Nail development Source: Ensembl
Positive regulation of transcription, DNA-templated Source: ARUK-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central
Tongue morphogenesis Source: Ensembl

Cellular Location

Nucleus

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).