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This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010].
Cenexin1 is an isoform of ODF2, that unlike ODF2 is present in several somatic cell types. Cenexin1 acts as a general scaffold protein that is specifically localised to the distal/subdistal appendages of mother centrioles. Cenexin1 is required for proper localization of Plk1 to the centrosomes. This centrosomal localization of Plk1 is required for proper microtubule function. Cenexin1 recruits Plk1 via a C-terminal extension of cenexin1 that is not present in ODF2. Cenexin1 is required for prop
Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'.
The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the fu
HSL/LIPE is found in adipose tissue and heart, where it primarily hydrolyzes stored triglycerides to free fatty acids. It is also found in steroidogenic tissues, where it principally converts cholesteryl esters to free cholesterol for steroid hormone production. There are two named isoforms.