TTC39B

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Description

The TTC39B (tetratricopeptide repeat domain 39B) is a protein-coding gene located on chromosome 9.

TTC39B, also known as Tetratricopeptide repeat protein 39B (TPR repeat protein 39B), plays a key role in regulating high-density lipoprotein (HDL) cholesterol metabolism. It achieves this by promoting the ubiquitination and subsequent degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).

TTC39B is also known as C9orf52.

Associated Diseases

• systemic mastocytosis