ITIH3, which is short for Inter-alpha-trypsin inhibitor heavy chain H3, is a 890 aa. protein. It is secreted expression, and belongs to the ITIH family. I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (H1, H2 or H3) and one light chain, bikunin. Inter-alpha-inhibitor (I-alpha-I) is composed of H1, H2 and bikunin, inter-alpha-like inhibitor (I-alpha-LI) of H2 and bikunin, and pre-alpha-inhibitor (P-alpha-I) of H3 and bikunin. ITTH3 may act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.
Integral Membrane Protein 2B (ITM2B) is expressed in the Golgi and on the cell surface. ITM2B forms homodimer through disulfide-linked interaction with SPPL2A, SPPL2B and APP. ITM2B is expressed in brain and the other tissues. Defects in ITM2B cause cerebral amyloid angiopathy ITM2B-related type 1(CAA-ITM2B1) and amyloid angiopathy ITM2B-related type 2(CAA-ITM2B2). CAA-ITM2B1 is characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. CAA-ITM2B2 characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina.
Inosine Triphosphate Pyrophosphatase (ITPase) is a cytoplasmic enzyme that belongs to the HAM1 NTPase family. ITPase hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP) and deoxyinosine triphosphate (dITP) to the monophosphate nucleotide (IMP) and diphosphate. The ITPase enzyme acts as a homodimer and does not distinguish between the deoxy- and ribose forms. ITPase probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. Defects in ITPase is thought to be inherited and is characterized by an over-accumulation of ITP in erythocytes, leukocytes and fibroblasts.
Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin.
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