Previous symbols: C14orf109, TMEM251. Aliases: DKFZP564F1123, GCAF.
KB entries label this CURIE TMEM251; HGNC's current symbol is LYSET.
LYSET (lysosomal enzyme trafficking factor; previously TMEM251) is named by 1 disorder entry.
LYSET is a small Golgi membrane protein that binds and stabilizes GlcNAc-1-phosphotransferase (GNPTAB), keeping the mannose 6-phosphate pathway working. The pinned ai-gene-review snapshot has no core functions for LYSET yet (0 terms); an upstream review is being added.
Dysostosis Multiplex, Ain-Naz Type types LYSET as causative, with the variants recorded as germline. The gene sits on the node Biallelic LYSET Loss of Function, annotated with protein stabilization (of GlcNAc-1-phosphotransferase).
ClinGen has classified LYSET for 0 diseases, consistent with only a handful of published families.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dysostosis Multiplex, Ain-Naz Type | causative germline loss of function |
mechanism: Biallelic LYSET Loss of Function
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.