Description
Product Characteristics:
HEATR2
Subcellular location: Cytoplasm
Synonyms: HEAT repeat containing protein 2, HEAT repeat-containing protein 2, HEAT2_HUMAN, HEATR2, hypothetical protein FLJ20397, MGC125214, MGC60818, FLJ25564, BC053401, C76907, FLJ20397, FLJ31671, FLJ39381.
Target Information: The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]