CYTA_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:
CSTA
, STF1, STFA
Protein names and data:
CYTA_HUMAN
, Cystatin-A
, Cystatin-AS; Stefin-A; Cystatin-A, N-terminally processed
Lenght: 98 a.a.
Mass: 11006 Da
fasta formatted sequence
Function:
This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis.
Disease:
( OMIM:
184600
607936
)
Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like (AREI) [MIM:607936]: A form of congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. AREI presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Tissue specificity:
Expressed in the skin throughout the epidermis.
Genetic variants
96 - 96
T -> M (in dbSNP:rs34173813). VAR_048851
34173813
Database cross-references
UniProt:
P01040
Ensembl:
ENST00000264474
MIM:
184600
MIM:
607936
neXtProt:
NX_P01040
Antibodypedia:
P01040
(may not find the protein thus also not any antibody)
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