SLFN12
Description
The SLFN12 (schlafen family member 12) is a protein-coding gene located on chromosome 17.
Schlafen family member 12 is a protein in humans that is encoded by the SLFN12 gene.
SLFN12 is a ribonuclease that plays a role in an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, leading to the dephosphorylation of SLFN12 and the activation of its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This pathway is likely important in tissues with high concentrations of E2 and may be involved in placenta remodeling. SLFN12 may also play a role in cell differentiation.
SLFN12 is also known as SLFN3.
Associated Diseases
- isolated agammaglobulinemia
- familial atrial fibrillation
- Brugada syndrome
- common variable immunodeficiency
- severe combined immunodeficiency due to CARD11 deficiency
- immunodeficiency 18
- severe combined immunodeficiency due to IKK2 deficiency
- hyper-IgM syndrome type 2
- immunodeficiency, common variable, 4
- hyper-IgM syndrome type 3
