DISEASES

Disease-gene associations mined from literature

Literature associating STBD1 and Lafora disease

STBD1 [ENSP00000237642]

Starch-binding domain-containing protein 1; Acts as a cargo receptor for glycogen. Delivers its cargo to an autophagic pathway called glycophagy, resulting in the transport of glycogen to lysosomes.

Synonyms:  FAM47E-STBD1,  STBD1,  B3KMK8,  O95210,  STBD1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM