Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Combined Automated Annotation using Multiple IEA Methods

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.

The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.

Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.