ZFYVE16

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Description

The ZFYVE16 (zinc finger FYVE-type containing 16) is a protein-coding gene located on chromosome 5.

ZFYVE16, encoded by the ZFYVE16 gene, is an endosomal protein involved in regulating membrane trafficking. It contains a FYVE domain that binds to phosphatidylinositol 3-phosphate. Its expression in melanocytic cells might be regulated by MITF. ZFYVE16 has been shown to interact with TOM1.

ZFYVE16 plays a role in regulating membrane trafficking within the endosomal pathway. Its overexpression leads to the clustering of endosomes. It is essential for the proper localization of TOM1 to endosomes.

ZFYVE16 is also known as PPP1R69.

Associated Diseases

• common variable immunodeficiency
• combined immunodeficiency with skin granulomas
• isolated agammaglobulinemia
• immunodeficiency 18
• severe combined immunodeficiency due to CTPS1 deficiency
• severe combined immunodeficiency due to CARD11 deficiency
• reticular dysgenesis
• BENTA disease
• immunodeficiency 105
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• immunodeficiency 62
• hyper-IgM syndrome type 3
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• immunodeficiency, common variable, 4
• immunodeficiency, common variable, 14
• agammaglobulinemia 10, autosomal dominant
• neutropenia, severe congenital, 2, autosomal dominant