Disease

Martsolf Syndrome

About the Disease
Martsolf Syndrome 1, also known as martsolf syndrome, is related to rab18 deficiency and warburg micro syndrome 2, and has symptoms including finger joint laxity An important gene associated with Martsolf Syndrome 1 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include eye, tongue and trachea, and related phenotypes are intellectual disability and cataract

Common Targets
RAB3GAP2 | ITPA | RAB3GAP1 | TBC1D20

疾病靶点研报
Martsolf Syndrome

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