SAMD12

SAMD12 (Sterile Alpha Motif Domain Containing 12) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is SAMD10.

Sterile Alpha Motif Domain Containing 12

Transmembrane receptor protein tyrosine kinase signaling pathway

Cytoplasmic side of plasma membrane

Epilepsy, 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.