Molecular function

Molecular function

• AAAS: achalasia, adrenocortical insufficiency, alacrimia
• ADAMTS10: ADAM metallopeptidase with thrombospondin type 1 motif, 10
• ALMS1: Alstrom syndrome 1
• BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
• CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
• COL5A2: collagen, type V, alpha 2
• FRMD7: FERM domain containing 7
• GAN: gigaxonin
• JPH3: junctophilin 3
• LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
• LFNG: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
• MPV17: MpV17 mitochondrial inner membrane protein
• NEFH: neurofilament, heavy polypeptide
• NYX: nyctalopin
• OTOF: otoferlin
• PKP2: plakophilin 2
• PRX: periaxin
• SEPN1: selenoprotein N, 1
• SLC6A8: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
• TMEM127: transmembrane protein 127
• TPM3: tropomyosin 3
• Antioxidant activity
• Binding
• Catalytic activity
• Channel regulator activity
• Chemoattractant activity
• Electron carrier activity
• Enzyme regulator activity
• Metallochaperone activity
• Molecular transducer activity
• Morphogen activity
• Nucleic acid binding transcription factor activity
• Protein binding transcription factor activity
• Receptor activity
• Receptor regulator activity
• Structural molecule activity
• Transporter activity

Source: Gene Ontology Consortium.