rs139210370

This variant is located in the TBC1D5 gene.

▶

ClinVar annotation

Likely Benign

1 submitter

TBC1D5-related disorder

About TBC1D5

Enables AP-2 adaptor complex binding activity and retromer complex binding activity. Involved in several processes, including macroautophagy; positive regulation of receptor internalization; and retrograde transport, endosome to Golgi. Located in several cellular components, including Atg1/ULK1 kinase complex; autophagosome; and cytoplasmic vesicle membrane. Part of retromer complex. [provided by Alliance of Genome Resources, Jul 2025]

View all TBC1D5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…