Transmembrane Protein 130 (TMEM130)

TMEM130, which contains a polycystic kidney domain on 7q22. On 6p12 the breakpoint directly interrupts isoform 2 of the human homologue of the mouse dystonin gene.

According to TMEM130 gene sequence(NM-152913) information,human brain cDNA library was used as the template and the specific primers were designed.The nPCR amplification product was separated by agarose gel and the band was cloned into PMD18T-vector and sequenced.The analysis results showed that the sequence is the transcript variant 2 of TMEM130,as a transmembrane protein,which contains an open reading frame of 1272 nucleotides and encodes a protein with 423 amino acids and contains a polycystic kidney disease(PKD)-related domain between 100 and 250 amino acid.