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TMEM176A is a 235 amino acid multi-pass membrane protein belonging to the TMEM176 family. The gene encoding GS188 maps to 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.
Synonyms: GS188, HCA112, Hepatocellular carcinoma-associated antigen 112, likley ortholog of mouse GS188, T176A_HUMAN, Tmem176a, Transmembrane protein 176A.