SGSM1
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
