Cartilage Paired Class Homeoprotein 1 (CART1)

The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly.

The CART1 gene predicts a 326-amino acid homeoprotein containing a paired-like domain. CART1 is homologous to the previously identified rat Cart1 gene. CART1 mRNA is detected in HeLa cells and human cervical tissue, suggesting that CART1 function may extend beyond cartilage biogenesis. CART1 gene maps to the same region of human chromosome 12 as the Holt-Oram syndrome, which is characterized by upper limb and atrial septal dysplasias.