DNAJC30
Description
The DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) is a protein-coding gene located on chromosome 7.
DNAJC30, also known as Williams Beuren syndrome chromosome region 18 protein (WBSCR18), is a human protein encoded by the DNAJC30 gene. This intronless gene belongs to the DNAJ molecular chaperone homology domain-containing protein family. It is deleted in Williams syndrome, a developmental disorder arising from the deletion of genes at chromosome region 7q11.23. The DNAJC30 gene consists of a single exon located at chromosome 7q11.23 in humans. Its open reading frame (ORF) spans 681 bp in human cDNA and 660 bp in mouse cDNA, encoding proteins of 226 and 219 residues, respectively. These proteins are members of the DNAJ molecular chaperone homology domain-containing protein family. DNAJC30 is expressed in various tissues, including the brain, heart, kidney, liver, lung, spleen, stomach, and testis, but not in the colon, small intestine, or muscle. The protein localizes to the cytosol and mitochondria. Although its precise biological function remains unclear, its centromeric position on the chromosome suggests a potential role in contributing to cognitive deficits, transient hypercalcemia, and gastrointestinal issues observed in Williams Beuren syndrome patients.
DNAJC30 is a mitochondrial protein primarily found in neurons. It plays a role in regulating mitochondrial respiration and associates with the ATP synthase complex, aiding in ATP production. This protein might act as a chaperone protein, involved in the turnover of subunits within the mitochondrial complex I N-module. It facilitates the degradation of damaged N-module subunits caused by oxidative stress, thereby contributing to the optimal functioning of complex I.
DNAJC30 is also known as LHONAR, LHONAR1, MC1DN38, WBSCR18.
Associated Diseases
- Williams syndrome
- Leber hereditary optic neuropathy
- Leber hereditary optic neuropathy, autosomal recessive
