Dnajc30 - DnaJ heat shock protein family (Hsp40) member C30 Gene

Also Known as Wbscr18; 1300007M11Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 66114

Summary

Involved in brain development and regulation of mitochondrial ATP synthesis coupled proton transport. Located in mitochondrion. Is expressed in several structures, including brain; genitourinary system; gut gland; respiratory system; and skeletal muscle tissue. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome and nuclear type mitochondrial complex I deficiency. Orthologous to human DNAJC30 (DnaJ heat shock protein family (HSP40) member C30). [provided by Alliance of Genome Resources, Apr 2022]

Dnajc30 Products (1)

mRNA Protein Name
NM_025362.3 NP_079638.2 dnaJ homolog subfamily C member 30, mitochondrial precursor
Biological Process GO Annotation Evidence References Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
30318146 MGI
involved in regulation of mitochondrial ATP synthesis coupled proton transport IMP
IMP: Inferred from mutant phenotype
30318146 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

dnaJ homolog subfamily C member 30, mitochondrial

  • DnaJ (Hsp40) homolog, subfamily C, member 30

  • Williams-Beuren syndrome chromosome region 18 homolog

  • Williams-Beuren syndrome critical region 18

  • williams-Beuren syndrome chromosomal region 18 protein homolog

Orthologs Information

Species Symbol Source ID
Homo sapiens Dnajc30 NCBI NCBI:84277