LYSET Chromosome 14

Lysosomal enzyme trafficking factor

3 variants 3 Health Risk

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What This Gene Does

Involved in lysosomal transport; lysosome organization; and regulation of vesicle-mediated transport. Located in Golgi cisterna. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (3)

Dysostosis multiplex

Ain-Naz type

Intellectual disability

Key Variants

RS1291335611

Likely pathogenic

Dysostosis multiplex, Ain-Naz type, Dysostosis multiplex

Health Risk

RS1894051550

Likely pathogenic

Intellectual disability, Intellectual disability

Health Risk

RS2140085425

Pathogenic

Dysostosis multiplex, Ain-Naz type, Dysostosis multiplex

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1291335611	Health Risk	Likely pathogenic	Dysostosis multiplex, Ain-Naz type, Dysostosis multiplex
RS1894051550	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability
RS2140085425	Health Risk	Pathogenic	Dysostosis multiplex, Ain-Naz type, Dysostosis multiplex