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Molecular function
Molecular function
ADAMTS10
: ADAM metallopeptidase with thrombospondin type 1 motif, 10
ALMS1
: Alstrom syndrome 1
BSCL2
: Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
GAN
: giant axonal neuropathy (gigaxonin)
JPH3
: junctophilin 3
MLC1
: megalencephalic leukoencephalopathy with subcortical cysts 1
OTOF
: otoferlin
PRKAG2
: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRODH
: proline dehydrogenase (oxidase) 1
PRX
: periaxin
SACS
: spastic ataxia of Charlevoix-Saguenay (sacsin)
SEPN1
: selenoprotein N, 1
Antioxidant activity
Auxiliary transport protein activity
Binding
Catalytic activity
Electron carrier activity
Enzyme regulator activity
Metallochaperone activity
Molecular transducer activity
Motor activity
Structural molecule activity
Transcription regulator activity
Translation regulator activity
Transporter activity
Source:
Gene Ontology Consortium
(September 2008).
Published: January 23, 2009