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Ccdc78
Coiled-coil domain-containing 78 (CCDC78) is a protein in humans encoded by the CCDC78 gene. It has several aliases including C16orf25, FLJ34512, CNM4, and JFP10. It is located on the (-) strand on chromosome 16 (16p13.3). It's gene neighborhood includes NARFL (also on the minus strand), HAGHL, FAM173A, and METRN. The CCDC78 gene is 10,892 base pairs long, and the protein contains 438 amino acids.〔(【引用サイトリンク】url=http://www.ncbi.nlm.nih.gov/ )〕 The protein weighs approximately 4.852 KDal.〔(【引用サイトリンク】work=Biology WorkBench )〕 There are several isoforms, including one indicated with a unique congenital myopathy.〔 Several expression profiles show it has ubiquitous expression at moderate levels. Although no paralogs exist several orthologs do.
== Function ==
The function of this gene is currently unknown. There is evidence that CCDC78 plays a role in skeletal muscle contraction. This is supported by structural similarities to other muscle proteins and by localization assays. CCDC78's predicted structure was similar to that of tropomyosin (see below).〔 The gene product is found primarily in the perinuclear region, the sarcolemmal membrane, and in the reticular pattern of the sarcoplasm. However, localization assays predict it to also be found in the cytoplasm.
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