| Primary Identifier | IPR039782 | Type | Family |
| Short Name | VPS13B |
| description | Intermembrane lipid transfer protein VPS13B (also known as Vacuolar protein sorting-associated protein 13B) may be involved in protein sorting in post Golgi membrane traffic. Mutations of the VPS13B gene cause Cohen syndrome (COH1), a rare autosomal recessive disorder characterised by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet [, ]. |
