靶标：
Dnajc30
产品别名：
1300007M11Rik； Wbscr18； Dnajc30； DnaJ heat shock protein family (Hsp40) member C30； DnaJ heat shock protein family (Hsp40) member C30； dnaJ homolog subfamily C member 30, mitochondrial； DnaJ (Hsp40) homolog, subfamily C, member 30； Williams-Beuren syndrome chromosome region 18 homolog； Williams-Beuren syndrome critical region 18； williams-Beuren syndrome chromosomal region 18 protein homolog； DNAJC30蛋白；
背景信息：
DNAJC30 is a member of the DNAJ molecular chaperone homology domain-containing protein family. DNAJC30 gene is deleted in williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. DNAJC30 is expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis. It contains 1 J domain. DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
