DNAJC21
Function
May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA.
Involvement in disease
Bone marrow failure syndrome 3
BMFS3
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in brain, placenta, kidney and pancreas.
Cellular localization
- Cytoplasm
- Nucleus
- Nucleus
- Nucleolus
- Within the nucleus, localizes primarily to the nucleolus.
Alternative names
DNAJA5, DNAJC21, DnaJ homolog subfamily C member 21, DnaJ homolog subfamily A member 5, Protein GS3