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Details of ATR gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| ATR | FRP1 | Q13535 | ATR_HUMAN | 545 | ENSG00000175054 | Serine/threonine-protein kinase ATR | SPROT |
Disease |
Disease |
OMIM id |
Seckel syndrome 1 (SCKL1) [MIM:210600]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. |
210600 |
Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]: A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614564 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Atr | mei-41 | --- | Sp-Atr |