Description
Product Characteristics:
ANKS6, also known as ankyrin repeat domain-containing protein 14, SAMD6 (sterile alpha motif domain-containing protein 6), SamCystin or PKDR1, is an 871 amino acid phosphoprotein that contains eleven ANK repeats, one SAM domain and exists as three alternatively spliced isoforms. Encoded by a gene that maps to human chromosome 9q22.33, ANKS6 is necessary for renal function and is linked to renal cyst formation in polycystic kidney disease. ANKS6 interacts with BICC1, another protein linked to polycystic kidney disease, and both co-localize to the same cell region. ANKS6 is involved in proteinprotein interactions with both itself as well as BICC1, and both proteins function in a molecular pathway that is linked to cystogenesis. ANKS6 may also be associated with dental anomolies.
Synonyms: ANKRD14, Anks6, ANKS6_HUMAN, ankyrin repeat and SAM domain containing protein 6, Ankyrin repeat and SAM domain-containing protein 6, ankyrin repeat domain 14, ankyrin repeat domain containing protein 14, Ankyrin repeat domain-containing protein 14, SAM domain containing protein 6, SAM domain-containing protein 6, SamCystin, SAMD6, sterile alpha mot domain containing 6, sterile alpha mot domain containing protein 6, Sterile alpha mot domain-containing protein 6.
Target Information: predicted gene locus whose mutation causes polycystic kidney disease in the Han:SPRD cy/+ rat strain (PKD), a model for human autosomal dominant polycystic kidney disease