THNSL2 (threonine synthase-like 2), also known as TSH2, is a 484 amino acid protein belonging to the threonine synthase family. Utilizing pyridoxal phosphate as a cofactor, THNSL2 may function as a catabolic phospholyase on gamma and beta phosphorylated substrates. THNSL2 may also degrade O-phospho-threonine to alpha-ketobutyrate, ammonia and phosphate. Existing as four alternatively spliced isoforms, THNSL2 is encoded by a gene mapping to human chromosome 2p11.2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8 gene defects. An extremely rare recessive genetic disorder, Alstrom syndrome, is related to mutations in the ALMS1 gene.
FLJ10916; FLJ35504; secreted osteoclastogenic factor of activated T cells; Secreted osteoclastogenic factor of activated T-cells; SOFAT; Threonine synthase-like 2; TSH2