International journal of molecular medicine

Identification and characterization of the human StARD9 gene in the LGMD2A-region on chromosome 15q15 by in silico methods.

PMID 16964419


StAR (steroidogenic acute regulatory) proteins and proteins with StAR-related lipid transfer (START) domains are involved in lipid transport and metabolism, signal transduction, and transcriptional regulation. In this present study we characterized the StARD9 gene by bioinformatical methods. The human StARD9 gene (syn. KIAA1300), consisting of 11 exons, was located within human genome sequence CTD-2036P10 (AC090510). The complete coding sequence of human StARD9 cDNA was determined by DKFZp781J069 cDNA (CR749416), which was identified by using a partial coding sequence of human StARD9 cDNA (AB037721) as a query. The existing predicted gene model could be refined based on EST-analysis. Comparison of the human protein sequence with chimpanzee, rat, mouse and chicken homologs showed a 98% (chimpanzee), 60% (rat), 60% (mouse) and 45% (chicken) amino-acid identity respectively. A lipid-binding START domain was identified within StARD9 protein. This is the first report on characterization of the StARD9 gene.