CSTB
entrez
1476
canonical
uniprot
P04080
canonical
ensembl
ENSG00000160213
resolver
ensp
ENSP00000291568
resolver
enst
ENST00000291568
resolver
genesymbol
CSTB
resolver
genesymbol_syn
CST6
resolver
genesymbol_syn
STFB
resolver
hgnc
HGNC:2482
resolver
uniprot
Q76LA1
resolver
uniprot_entry
CYTB_HUMAN
resolver
uniprot_entry
Q76LA1_HUMAN
resolver
amino_acid_sequence
MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1 is an autosomal recessive form characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. {ECO:0000269|PubMed:9012407}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.
uniprot
proteins
mass_dalton
11140
uniprot
proteins
protein_family
Cystatin family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11139332
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
2347312
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3902020
uniprot
proteins
pubmed
8596935
uniprot
proteins
pubmed
9012407
uniprot
proteins
sequence_length
98
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11139332}. Nucleus {ECO:0000269|PubMed:11139332}.
uniprot
proteins