Molecular function

Molecular function

• AAAS: achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)
• ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10
• ALMS1: Alstrom syndrome 1
• BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
• COL5A2: collagen, type V, alpha 2
• GAN: gigaxonin
• JPH3: junctophilin 3
• LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
• MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
• NEFH: neurofilament, heavy polypeptide
• NYX: nyctalopin
• OFD1: oral-facial-digital syndrome 1
• OTOF: otoferlin
• PRODH: proline dehydrogenase (oxidase) 1
• PRX: periaxin
• SEPN1: selenoprotein N, 1
• SOST: sclerosteosis
• Antioxidant activity
• Binding
• Catalytic activity
• Channel regulator activity
• Electron carrier activity
• Enzyme regulator activity
• Metallochaperone activity
• Molecular transducer activity
• Structural molecule activity
• Transcription regulator activity
• Transporter activity

Source: Gene Ontology Consortium.