Family

Cappuccino (IPR024857)

Short name: Cappuccino

Family relationships

None.

Description

This entry represents the cappuccino family. In mouse, the cappuccino protein is part of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. It plays a role in intracellular vesicle trafficking [PMID: 12576321]. Mutations in cappuchino are characterised by a severe oculocutaneous albinism due to abnormal melanosome formation, and prolonged bleeding due to deficiency of platelet dense body contents [PMID: 11110696].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER