DNAJB13 gene

DnaJ heat shock protein family (Hsp40) member B13

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

From NCBI Gene:

This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]

From UniProt:

May play a role in the formation of the central complex of ciliary and flagellar axonemes.

From NCBI Gene:

  • Ciliary dyskinesia, primary, 34

From UniProt:

Ciliary dyskinesia, primary, 34 (CILD34): A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. [MIM:617091]

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4

Molecular Location: base pairs 73,950,319 to 73,970,287 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q13.4, which is the long (q) arm of chromosome 11 at position 13.4
  • CILD34
  • RSPH16A
  • TSARG5
  • TSARG6