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GJA8 - gap junction protein alpha 8
- Synonym(s) : connexin 50, CX50
- Previous symbols and names : CAE, CAE1, CZP1, gap junction protein, alpha 8, 50kD (connexin 50), gap junction protein, alpha 8, 50kDa, gap junction protein, alpha 8, 50kDa (connexin 50)
- Type : gene with protein product
- Chromosomal location : 1q21.2
- OMIM: 600897
- HGNC: 4281
- UniProtKB: P48165
- Genatlas: GJA8
- GenCC: GJA8
- Ensembl: ENSG00000121634
- IUPHAR-DB: 732
- Reactome: P48165
- LOVD: GJA8
Diseases list
- Disease-causing germline mutation(s) in Cataract-microcornea syndrome
ORPHA:1377 
- Disease-causing germline mutation(s) in Early-onset nuclear cataract
ORPHA:98991 - Disease-causing germline mutation(s) in Early-onset sutural cataract
ORPHA:98985 - Disease-causing germline mutation(s) in Isolated congenital sclerocornea
ORPHA:91490 - Disease-causing germline mutation(s) in Total early-onset cataract
ORPHA:98994 - Disease-causing germline mutation(s) (loss of function) in Pulverulent cataract
ORPHA:98984
: AssessedAdditional information
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