PLEKHO2

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Description

The PLEKHO2 (pleckstrin homology domain containing O2) is a protein-coding gene located on chromosome 15.

PLEKHO2 is also known as PLEKHQ1, PP1628, pp9099.

Associated Diseases

• severe combined immunodeficiency due to CARD11 deficiency
• neutropenia-monocytopenia-deafness syndrome
• neutropenia, severe congenital, 1, autosomal dominant
• neutropenia, severe congenital, 2, autosomal dominant
• X-linked severe congenital neutropenia