SAC3D1

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Description

The SAC3D1 (SAC3 domain containing 1) is a protein-coding gene located on chromosome 11.

SAC3 domain-containing protein 1 is a protein that in humans is encoded by the SAC3D1 gene.

Plays a crucial role in the duplication of centrosomes, which are essential for cell division, and in the progression of mitosis (cell division).

SAC3D1 is also known as HSU79266, SHD1.

Associated Diseases

• neutrophil immunodeficiency syndrome
• reticular dysgenesis
• hyper-IgM syndrome type 3
• short-limb skeletal dysplasia with severe combined immunodeficiency
• BENTA disease
• beta-thalassemia-X-linked thrombocytopenia syndrome
• severe combined immunodeficiency due to CARD11 deficiency
• autoimmune lymphoproliferative syndrome type 2B
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• autoimmune lymphoproliferative syndrome type 4
• immunodeficiency 105