(DnaJ (Hsp40) Homolog, Subfamily C, Member 30 (DNAJC30))
This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008].
Tebbenkamp, Varela, Choi, Paredes, Giani, Song, Sestan-Pesa, Franjic, Sousa, Liu, Li, Bichsel, Koch, Szigeti-Buck, Liu, Li, Kawasawa, Paspalas, Mineur, Prontera, Merla, Picciotto, Arnsten, Horvath et al.: "The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. ..." in: Cell, Vol. 175, Issue 4, pp. 1088-1104.e23, (2018) (PubMed).
Aliases for DNAJC30 抗体
DnaJ heat shock protein family (Hsp40) member C30 (DNAJC30) 抗体 DnaJ heat shock protein family (Hsp40) member C30 (Dnajc30) 抗体 1300007M11Rik 抗体 WBSCR18 抗体 Wbscr18 抗体