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Members of the transforming growth factor b superfamily bind to a pair of transmembrane proteins, known as receptor types I and II, which contain serine/threonine kinases and associate to form a signaling complex (1). Activin has been shown to bind a heteromeric noncovalent complex, which consists of a type I receptor, ACTR-IA (also designated ACVRI and ALK-2) or ACTR-IB (also designated ALK-4 and SKR2), and a type II receptor, ACTR-IIA (also designated ACVR2A) or ACTR-IIB (also designated

Prevents motor-neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy.

CHX10 is a 40kDa homeodomain protein of the paired-like class that is essential for development of the mammalian eye. Mutations in CHX10 cause microphthalmia, a cause of congenital blindness in humans, and the ocular retardation (or) phenotype in mice. In the developing mouse retina CHX10 is expressed in retinal progenitors, while in the mature retina, CHX10 expression becomes restricted to bipolar neurons. Concurrent with these expression patterns, the CHX10-/- (or) retina is thin due to a de

The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene

DNA replication, recombination and repair, all of which are necessary for genomic stability, require the presence of exonucleases. In DNA replication, these enzymes are involved in the processing of Okazaki fragments, whereas in DNA repair, they function to excise damaged DNA fragments and correct recombinational mismatches. These exonucleases include the family of DNA polymerases (DNA?pol). DNA pol Alpha, Beta, Gamma, and epsilon are involved in DNA replication and repair. DNA pol gamma ａ

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency