Sterile alpha motif domain-containing protein 12 (SAMD12)

Sterile alpha motif domain-containing protein 12 (SAMD12) is a nerve tissue protein encoded by the SAMD12 gene, containing a SAM domain. Its exact cellular and molecular function is not fully characterized, but it is implicated in cell surface receptor signaling and may play roles in cell proliferation and inhibition of apoptosis. Pathogenic pentanucleotide repeat expansions in its intronic regions (especially TTTCA insertions) are a causative genetic lesion in benign adult familial myoclonic epilepsy, making its mutation a distinctive diagnostic biomarker for this disease. While not categorized as a classical therapeutic target or receptor, SAMD12 is clinically relevant due to its role in neurodegenerative disease and its association with disease-specific genomic signatures[2][3][1].

Other names

Sterile alpha motif domain-containing protein 12SAMD12SAM domain-containing protein 12FLJ39458Benign adult familial myoclonic epilepsy 1 (BAFME1)Familial adult myoclonic epilepsy 1 (FAME1)Familial cortical myoclonic tremor with epilepsy 1 (FCMTE1)Myoclonic epilepsy, benign adult familial

None defined