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Gene Information
Gene symbol: AMMECR1
Gene name: Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
HGNC ID: 467
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | COL1A1 | 1 hits |
| 2 | COL4A5 | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 8176894 | Alport syndrome is an inherited disorder affecting the kidney, eye and ear arising from mutations in the gene COL4A5, which encodes the alpha 5 chain of type IV collagen. |
| 2 | 8176894 | Structural defects of glomerular basement membranes in Alport syndrome are associated in most instances with failure to detect the alpha 3, alpha 4, and alpha 5 chains of type IV collagen as well as the Alport antigen that is identified in normal tissues by a genetically discriminating alloantibody and monoclonal antibody. |
| 3 | 8176894 | These findings suggest that anterior lenticonus in patients with Alport syndrome may be associated with absence of the alpha 3 and alpha 4 chains of type IV collagen, as well as the alpha 5 (IV) chain, from anterior lens capsule. |