DNAJC21 gene

DnaJ heat shock protein family (Hsp40) member C21

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Shwachman-Diamond syndrome 1
  • Bone marrow failure syndrome 3

From UniProt:

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 features. 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. [MIM:617052]

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 34,929,540 to 34,958,964 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 5p13.2, which is the short (p) arm of chromosome 5 at position 13.2
  • BMFS3
  • DNAJA5
  • GS3
  • JJJ1