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Beschreibung:
Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28
Beschreibung:
Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28
Beschreibung:
The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. The genes encoding human CLC-1 through CLC-7 map to chromosomes 7q32, 3q28, 4q32, Xp22.3, Xp11.23-p11.22, 1p36 and 16p13, respectively. CLC1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC1 lead to myotonia, an inheritable disorder characterised by muscle stiffness and renal salt wasting. CLC2 is highly expressed in the epithelia of several organs including lung, which suggests CLC2 may be a possible therapeutic target for cystic fibrosis. CLC3 expression is particularly abundant in neuronal tissue, while CLC4 expression is evident in skeletal and cardiac muscle as well as brain. Mutations in the gene encoding CLC5 lead to Dent's disease, a renal disorder characterised by proteinuria and hypercalciuria. CLC6 and CLC7 are broadly expressed in several tissues including testis, kidney, brain and muscle.
Beschreibung:
Chloride channels (CLCs) regulate cellular traffic of chloride ions, a critical component of all living cells. CLCs are involved in membrane potential stabilization, signal transduction, cell volume regulation and organic solute transport. The putative 247 amino acid protein chloride intracellular channel 2 (CLIC2), also designated XAP121, shares 60% identity with the CLIC1 protein and demonstrates expression in only fetal liver and adult skeletal muscle tissues. The CLIC2 gene maps to chromosome Xq28 and contains 6 exons. Because a direct association exists between a number of human chloride channel genes and a range of hereditary diseases, CLIC2 is a potential candidate for one of the many diseases linked to Xq28. The hereditary form of incontinentia pigmenti (IP2), for example, is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm that has been linked to Xq28
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