SAMD12
entrez
401474
canonical
uniprot
Q8N8I0
canonical
ensembl
ENSG00000177570
resolver
ensp
ENSP00000314173
resolver
ensp
ENSP00000387133
resolver
ensp
ENSP00000435927
resolver
ensp
ENSP00000634624
resolver
ensp
ENSP00000661092
resolver
ensp
ENSP00000778987
resolver
enst
ENST00000314727
resolver
enst
ENST00000409003
resolver
enst
ENST00000524796
resolver
genesymbol
SAMD12
resolver
hgnc
HGNC:31750
resolver
uniprot
B8ZZB7
resolver
uniprot
H0YEJ0
resolver
uniprot
Q0P502
resolver
uniprot_entry
B8ZZB7_HUMAN
resolver
uniprot_entry
H0YEJ0_HUMAN
resolver
uniprot_entry
SAM12_HUMAN
resolver
uniprot_sec
Q0P502
resolver
amino_acid_sequence
MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKSATVKLSKPVALWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLERMGIAQENLRQHILQQVLQLKVREEVRNLQLLTQGTLLLPDGWMDGEIRRKTTLLLGQTGVRENLLLFLHRISIIENSIQI
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, familial adult myoclonic, 1 (FAME1) [MIM:601068]: 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. {ECO:0000269|PubMed:29507423, ECO:0000269|PubMed:29939203}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
22907
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
29507423
uniprot
proteins
pubmed
29939203
uniprot
proteins
sequence_length
201
uniprot
proteins