CSTA

Chr 3q21.1

cystatin A

MANE:: ENST00000264474.4

OMIM: 184600 ↗NCBI: 1475 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CSTA · P01040

v62025-08-01

Predicted Aligned Error matrix for CSTA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.2/ 100

Very high

98 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)14%
Low(50–70)3%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas
BIALLELIC, autosomal or pseudoautosomal
Peeling skin syndrome
BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

peeling skin syndrome 4
0.71
exfoliative ichthyosis
0.64
acral peeling skin syndrome
0.39
Hyperkeratosis
0.37
Palmoplantar hyperkeratosis
0.37
Erythema
0.37
ichthyosis
0.37
Skin erosion
0.37
Hyperhidrosis
0.37
exfoliative dermatitis
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cystatin-A

This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis