SGSM3 Chromosome 22

Small G protein signaling modulator 3
1 variant 1 Health Risk

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What This Gene Does
Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Small G protein signaling modulators
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100359
Associated Conditions (3)
SGSM3-related intellectual disability
INTELLECTUAL DEVELOPMENTAL DISORDER
AUTOSOMAL RECESSIVE 84
Key Variants
RS754440220
Likely pathogenic
SGSM3-related intellectual disability, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 84
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS754440220 Health Risk Likely pathogenic SGSM3-related intellectual disability, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 84
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