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DnaJ heat shock protein family (Hsp40) member C17 (DNAJC17)
- Target
- DNAJC17
- Molecular classification
- Heat shock protein (Hsp40) family, DnaJ homolog (subfamily C), RNA-binding protein, Spliceosomal protein
01
Overview
DNAJC17 is a member of the heat shock protein 40 (Hsp40) family, specifically within subfamily C. It contains a J domain (cochaperone function) at the N-terminal region and a C-terminal RNA recognition motif (RRM) typical of many splicing factors. DNAJC17 localizes predominantly to nuclear speckles and interacts with multiple proteins involved in pre-mRNA splicing, such as PRP19, PLRG1, CDC5L, and SNRNP200. Experimental data support its role in regulating splicing efficiency and modulating RNA metabolism. Homozygous loss of DNAJC17 in mice is embryonic lethal, and germline mutations are implicated in rare congenital and syndromic disorders, demonstrating its essential function during early development. There is no evidence implicating DNAJC17 as a therapeutic target or biomarker in current biomedical applications.
- Other names
- DNAJC17DnaJ homolog subfamily C member 17FLJ10634dnaJ homolog subfamily C member 17DnaJ (Hsp40) homolog, subfamily C, member 17
02
Biological functions
RNA bindingSpliceosomal complex disassemblyRegulation of transcription by RNA polymerase II (negative regulation)Pre-mRNA splicing modulationPossibly protein folding as a cochaperone
03
Disease associations
Congenital hypothyroidismCombined oxidative phosphorylation deficiencyRetinal disease (syndromic retinal dystrophy)Candidate for myeloproliferative disorders
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