KERA Antibody

1. We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene. PMID: 28799822
2. KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana PMID: 28677912
3. The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease. PMID: 25967529
4. a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. PMID: 26099342
5. Corneal endothelial disorders were found with compound mutations in KERA PMID: 23834557
6. rare variant in KERA was identified in a large kindred with premature atherosclerosis PMID: 24879339
7. Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region. PMID: 20357198
8. KERA mutation is associated with autosomal recessive cornea plana PMID: 15370545
9. This is the first report of the identification of a mutation within KERA in a family of Hispanic origin with autosomal recessive cornea plana. PMID: 16157807
10. No evidence that endothelial dysfunction and germline mutation of lumican and keratocan genes participate in the etiology of subepithelial corneal haze. PMID: 16760896
11. Specific for mutation in KERA, the ophthalmic phenotype of recessive cornea plana does not significantly vary with different KERA mutations. PMID: 17011957
12. In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis. PMID: 17558846
13. This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene. PMID: 17679937
14. Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci. PMID: 18620607

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HGNC: 6309

OMIM: 217300

KEGG: hsa:11081

STRING: 9606.ENSP00000266719

UniGene: Hs.125750