| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Coiled-coil domain-containing protein 6
|
| http://www.biopax.org/relea... |
CCDC6_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Papillary thyroid carcinoma-encoded protein,
Protein H4
|
| http://www.biopax.org/relea... |
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton (Probable). Note=May be a cytoskeletal protein. TISSUE SPECIFICITY: Ubiquitously expressed. DOMAIN: The protein has mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation. DISEASE: Defects in CCDC6 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving CCDC6 is found in thyroid papillary carcinomas. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene. SEQUENCE CAUTION: Sequence=AAC60637.1; Type=Frameshift; Positions=456; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/H4ID280.html"; GENE SYNONYMS: D10S170 TST1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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| skos:exactMatch |