Description
Product Characteristics:
GLCCI1, also known as TSSN1, GIG18 or FAM117C, is a 547 amino acid protein found in thymus and CD4(+)CD8(+) cells during specific stages of spermatogenesis in testis. Subject to phosphorylation, GLCCI1 is encoded by a gene located on human chromosome 7, which houses over 1,000 genes and comprises nearly 5 % of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Subcellular location: Cytoplasm, Nucleus
Synonyms: FAM117C, GIG18, GLCCI1, GLCI1_HUMAN, Glucocorticoid induced transcript 1, Glucocorticoid-induced transcript 1 protein, TSSN1.
Target Information: This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]