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Table 1 Gene and gene functions in the region of 7p12.3 (position 47,596,152–48,148,091)

From: Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

Gene Description Function of gene product
TNS3 Tensin 3 Role in actin remodeling. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3, which results in capping the tail of ITGB1.
PKD1L1 Polycystin 1-Like 1 Component of a ciliary calcium channel that controls calcium concentration within primary cilia without affecting cytoplasmic calcium concentration.
HUSI Human Seminal Plasma İnhibitor-I The antileukoprotease from human seminal plasma HUSI-I (human seminal plasma inhibitor-I) and the inhibitor found in mucous secretions from the cervix, although isolated from different tissues, seem to be identical proteins. Involved in the regulation of serine protease-dependent germ cell apoptosis. It also inhibits trypsin.
UPP1 Uridine phosphorylase 1 Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.