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This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]

Arginase I which is expressed almost exclusively in the liver, catalyzes the conversion of arginine to ornithine and urea . The human arginase I gene, which maps to chromosome 6q23, encodes a 322 amino acid protein. Arginase I exists as a homotrimeric protein and contains a binuclear manganese cluster. Arginase II catalyzes the same reaction as arginase I, but differs in its tissue specificity and subcellular location. Specifically, arginase II localizes to the mitochondria. Arginase II is e

Myogenin is a member of a family of myogenic regulatory genes, which includes MyoD, myf5 and MRF4. These genes encode a set of transcription factors, which are essential for muscle development. Transfection of myogenin into multipotential mesodermal cells have been shown to convert the mesodermal cells to myoblasts. Expression of myogenin is restricted to cells of skeletal muscle origin. It is therefore a useful marker for tumors of the muscle lineage, being strongly expressed in alveolar rhab

This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant diseas

The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransf