rs1561180439
This variant is located in the DNAJC21 gene.
▶ClinVar annotation
Bone marrow failure syndrome 3; Inborn genetic diseases
View on ClinVar →About DNAJC21
This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
View all DNAJC21 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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