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Overview
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Gene Accession: BC012575
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Background
The zinc finger CCCH domain-containing protein 7A (ZC3H7A), also known as ZC3H7, HSPC055 or ZC3HDC7, is a 971 amino acid protein that contains a C3H1-type zinc finger domain, three C3H1-type zinc fingers and three TPR repeats. Belonging to the ZC3H12 family, ZC3H7A localizes to the nucleus. Existing as two alternatively spliced isoforms, ZC3H7A is encoded by a gene located on human chromosome 16p13.13. Chromosome 16 makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene.
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