RAB7A

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RAB7A

A gene on chromosome 3q21.3 that encodes a member of the Rab subfamily of Ras-related small GTPases, which regulates vesicle traffic in the late endosomes, as well as from late endosomes to lysosomes.

Molecular pathology
RAB7A is linked to cellular vacuolisation by the VacA cytotoxin of Helicobacter pylori; RAB7A mutations have been linked to some forms of Charcot-Marie-Tooth disease.
References in periodicals archive ?
aellikle ciddi ulserasyon problemi ile karakterize tip2B de, defektin; kromozom 3 deki RAB7 proteininde oldugu ve duyusal noropatinin motor noropatiye nazaran cok daha on planda bulundugu gosterilmistir (5).
Houlder H, King RHM, Muddle JR et al: A novel RAB7 mutation associated with ulcero-mutilating neuropathy.