SGSM1

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Description

The SGSM1 (small G protein signaling modulator 1) is a protein-coding gene located on chromosome 22.

SGSM1, also known as RUN and TBC1 domain-containing protein 2 (RUTBC2) and nurr1-interacting protein (NuIP), is a protein in humans that is encoded by the SGSM1 gene.

SGSM1 interacts with numerous members of the Rab family, acting as a Rab effector for some and a GTPase activator for others. It promotes GTP hydrolysis by RAB34 and RAB36. SGSM1 likely functions as a GTPase effector with RAB9A and RAB9B, but does not stimulate GTP hydrolysis with these Rab proteins.

SGSM1 is also known as RUTBC2.

Associated Diseases

• microcytic anemia with liver iron overload
• 22q11.2 deletion syndrome
• hemochromatosis type 5
• hemoglobin E-beta-thalassemia syndrome
• IRIDA syndrome
• hemoglobin D disease
• Rh deficiency syndrome
• hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• cryohydrocytosis
• overhydrated hereditary stomatocytosis
• sideroblastic anemia 3
• familial pseudohyperkalemia
• severe congenital hypochromic anemia with ringed sideroblasts
• X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
• combined immunodeficiency with skin granulomas