RBCC Red Blood Cell Collection

CYTB_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CSTB , CST6, STFB
Protein names and data: CYTB_HUMAN , Cystatin-B , CPI-B; Liver thiol proteinase inhibitor; Stefin-B Lenght: 98 a.a.
Mass: 11140 Da
fasta formatted sequence
Function: This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.
Disease: ( OMIM: 254800 601145 ) Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An autosomal recessive disorder 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus.

Genetic variants

4 - 4 G -> R (in EPM1). VAR_002206

Database cross-references

UniProt: P04080
Ensembl: ENST00000291568
MIM: 254800
MIM: 601145
neXtProt: NX_P04080
Antibodypedia: P04080 (may not find the protein thus also not any antibody)
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