Clefts of the oral-facial region usually occur in early fetal development and can affect the lip, the soft palate (the soft tissue in the back of the mouth) and the hard palate (the roof of the mouth). Cleft lip (with or without cleft palate) is a genetically complex birth defect that occurs in approximately one in every 750-1,000 live births. This is one of the most common birth defects and is multifactorial, with both genetic and environmental causes. Cleft lip- and palate-associated tra

Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]

This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]

The NDRG3 protein is a 41 kDa cytoplasmic protein that exists in three isoforms, the first of which is the canonical 41 kDa, 375 amino acid form. It is a member of the NDRG family of proteins and is involved in cell differentiation and negative regulation of cell growth.

The melanocortin family comprises the Alpha-, Beta- and Gamma- melanocyte stimulating hormones (MSH) and adrenocorticotrophin. The receptors for these hormones are seven-transmembrane G protein-coupled proteins that activate adenylyl cyclase. Five melanocortin receptors have been cloned and shown to exhibit different affinities and patterns of expression. MC1-R (MSH-R) is expressed in melanocytes and corticoadrenal tissue. MC2-R is the ACTH receptor and is expressed primarily in the adren