DNAJC30 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
DNAJC30
Official Name
DnaJ heat shock protein family (Hsp40) member C30 [Source:HGNC Symbol;Acc:HGNC:16410]
Ensembl ID
ENSG00000176410
Bio databases IDs NCBI: 84277 Ensembl: ENSG00000176410
Aliases DnaJ heat shock protein family (Hsp40) member C30
Synonyms 1300007M11Rik, DnaJ heat shock protein family (Hsp40) member C30, LHONAR, LHONAR1, LOC680976, MC1DN38, WBSCR18
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DNAJC30 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • DnaJ domain
  • DnaJ
  • DnaJ molecular chaperone homology domain
  • protein binding

Pathways

Biological processes and signaling networks where the DNAJC30 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • retinal dystrophy
  • autosomal recessive Leber hereditary optic neuropathy
  • optic atrophy
  • susceptibility to Leber optic atrophy
role in cell
  • production in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DNAJC30 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • brain development
  • ATP biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.