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