DNAJC30 gene

DnaJ heat shock protein family (Hsp40) member C30

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis.

Covered on Genetics Home Reference:

From UniProt:

DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:12073013, PubMed:30318146). 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 (PubMed:30318146). WBS is an autosomal dominant disorder characterized by multiple clinical manifestations including neurologic features such as mental retardation, cardiovascular, urogenital and skeletal features, and distinctive facies (PubMed:30318146). Deletion of DNAJC30 is responsible for mitochondrial dysfunction underlyining certain neurodevelopmental abnormalities observed in WBS (PubMed:30318146).

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23

Molecular Location: base pairs 73,680,918 to 73,683,451 on chromosome 7 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 7q11.23, which is the long (q) arm of chromosome 7 at position 11.23
  • WBSCR18