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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DnaJ (Hsp40) homolog, subfamily C, member 30; DnaJ homolog subfamily C member 30, mitochondrial; Williams Beuren syndrome chromosome region 18; Williams-Beuren syndrome chromosomal region 18 protein
Gene Aliases: DNAJC30; WBSCR18
UniProt ID: (Human) Q96LL9
Entrez Gene ID: (Human) 84277
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