AlphaFold predicted structure
KEL · P23276
Mean pLDDT
87.4/ 100
Confident
732 residues
Confidence breakdown
- Very high(≥ 90)64%
- Confident(70–90)25%
- Low(50–70)5%
- Very low(< 50)5%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KEL
Chr 7q34Kell metallo-endopeptidase (Kell blood group)
- Aliases:
- ECE3, CD238
- MANE:
- ENST00000355265.7
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Cerebral vascular malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
vein of Galen aneurysm
0.48neurodegenerative disease
0.44acute myeloid leukemia
0.07X-linked sideroblastic anemia with ataxia
0.05Romano-Ward syndrome
0.04recessive mitochondrial ataxia syndrome
0.0415q11q13 microduplication syndrome
0.04Tako-tsubo cardiomyopathy
0.04familial pseudohyperkalemia
0.03Ataxia - oculomotor apraxia type 1
0.03
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Kell blood group glycoprotein
Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3