Entity Details

Primary name SAMD12
Entity type gene
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Details

PrimaryID401474
RefseqGene
SymbolSAMD12
Namesterile alpha motif domain containing 12
Chromosome8
Location8q24.11-q24.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-02-18
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsSAM12_HUMAN

GO terms

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Diseases

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Disease IDSourceNameDescription
601068 OMIMEpilepsy, familial adult myoclonic, 1 (FAME1)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. FAME1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.