CART1 Antibody – Mouse Monoclonal

Cart1: Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in chondrocyte differentiation and may also influence cervix development. Defects in ALX1 are the cause of frontonasal dysplasia type 3 (FND3). The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. Belongs to the paired homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 12q21.31

Cellular Component: nucleoplasm; Golgi apparatus; transcription factor complex; nucleus

Molecular Function: protein binding; protein heterodimerization activity; transcription factor activity; transcription corepressor activity

Biological Process: transcription from RNA polymerase II promoter; multicellular organismal development; positive regulation of transcription, DNA-dependent; palate development; negative regulation of transcription from RNA polymerase II promoter; embryonic skeletal morphogenesis; anterior/posterior pattern formation; neural tube closure; positive regulation of transcription from RNA polymerase II promoter; brain development; cartilage condensation; mesenchymal cell development; embryonic limb morphogenesis

Disease: Frontonasal Dysplasia 3