PPP1R18
Description
The PPP1R18 (protein phosphatase 1 regulatory subunit 18) is a protein-coding gene located on chromosome 6.
Isoform 1 of PPP1R18, also known as Phostensin, may play a role in directing protein phosphatase 1 (PP1) to the F-actin cytoskeleton.
PPP1R18 is also known as HKMT1098, KIAA1949.
Associated Diseases
- reticular dysgenesis
- common variable immunodeficiency
- neutrophil immunodeficiency syndrome
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 18
- immunodeficiency 105
- isolated agammaglobulinemia
- severe combined immunodeficiency due to CARD11 deficiency
- BENTA disease
- hyper-IgM syndrome type 3
- short-limb skeletal dysplasia with severe combined immunodeficiency
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- severe combined immunodeficiency due to LAT deficiency
- combined immunodeficiency due to moesin deficiency
- agammaglobulinemia 7, autosomal recessive
