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COL4A4 - collagen type IV alpha 4 chain
- Synonym(s) : CA44, collagen of basement membrane, alpha-4 chain
- Previous symbols and names : collagen, type IV, alpha 4
- Type : gene with protein product
- Chromosomal location : 2q36.3
- OMIM: 120131
- HGNC: 2206
- UniProtKB: P53420
- Genatlas: COL4A4
- GenCC: COL4A4
- Ensembl: ENSG00000081052
- IUPHAR-DB: -
- Reactome: P53420
- LOVD: COL4A4
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Alport syndrome
ORPHA:88918 
- Disease-causing germline mutation(s) in Autosomal recessive Alport syndrome
ORPHA:88919 - Disease-causing germline mutation(s) in Digenic Alport syndrome
ORPHA:653722 - Disease-causing germline mutation(s) in NON RARE IN EUROPE: Benign familial hematuria
ORPHA:97562
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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