EFCAB6

Chr 22

EF-hand calcium binding domain 6

Also known as: DJBP, HSCBCIP1, dJ185D5.1

NCBI Gene: 64800 ENSG00000186976 UniProt: Q5THR3

The protein negatively regulates androgen receptor by recruiting histone deacetylase complexes and functions as a microtubule inner protein required for motile cilia beating. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory cilia function that typically presents in early childhood with chronic respiratory infections, bronchiectasis, and situs inversus in approximately half of patients. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.16

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)