Entity Details

Primary name MARCHF6
Entity type gene
Source Source Link

Details

PrimaryID10299
RefseqGene
SymbolMARCHF6
Namemembrane associated ring-CH-type finger 6
Chromosome5
Location5p15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMARH6_HUMAN

GO terms

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GOName
GO:0000835 ER ubiquitin ligase complex
GO:0004842 ubiquitin-protein transferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0008270 zinc ion binding
GO:0010498 proteasomal protein catabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016567 protein ubiquitination
GO:0019899 enzyme binding
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030433 ubiquitin-dependent ERAD pathway
GO:0031624 ubiquitin conjugating enzyme binding
GO:0036503 ERAD pathway
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0044322 endoplasmic reticulum quality control compartment
GO:0061630 ubiquitin protein ligase activity
GO:0070936 protein K48-linked ubiquitination
GO:1904380 endoplasmic reticulum mannose trimming
GO:1990381 ubiquitin-specific protease binding

Diseases

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Disease IDSourceNameDescription
613608 OMIMEpilepsy, familial adult myoclonic, 3 (FAME3)A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.