Gene Symbol | DNAJC21 |
Entrez Gene ID | 134218 |
Full Name | DnaJ heat shock protein family (Hsp40) member C21 |
Synonyms | BMFS3,DNAJA5,GS3,JJJ1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Bone marrow failure syndrome 3, 617052 (3) |