The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]

TMEM2L belongs to the TMEM2 family and contains 4 PbH1 repeats. It is expressed in the inner ear. It is expressed in cochlea and vestibule tissues and it may be involved in hearing. Defects in KIAA1199 may be a cause of non-syndromic hearing loss. It is also thought that KIAA1199 is a tumor suppressor that may be involved in establishing cellular mortality in normal human cells.

Glutamate receptors mediate most excitatory neurotransmissions in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are divided into two categories, namely NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Kainate/AMPA receptors consist of seven structurally related subunits, designated GluR-1 to -7, and are primarily responsible for fast excitatory

Na-K-Cl cotransporters (NKCC) are channel proteins that aid in the transcellular movement of chloride across both secretory and absorptive epithelia. NKCC1 is expressed in muscle cells, neurons, and red blood cells. In the basolateral membrane of secretory epithelia, NKCC1 mediates active chloride secretion. The gene encoding human NKCC1 maps to chromosome 5q23.3. In mice, disruption of the NKCC1 gene leads to deafness and impaired balance. NKCC2 is specifically expressed in the kidney where

This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a