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Browse result for Seckel syndrome
※ introduction Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow¨CSeckel dwarfism and bird-headed dwarf of Seckel) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. It is characterized by intrauterine growth restriction and postnatal dwarfism with a small head, narrow bird-like face with a beak-like nose, large eyes with down-slanting palpebral fissures, receding mandible and intellectual disability.
A mouse model has been developed. This mouse model is characterized by a severe deficiency of ATR protein. These mice have high levels of replicative stress and DNA damage. Adult Seckel mice display accelerated aging. These findings are consistent with the DNA damage theory of aging.
Reference
Wiki: Seckel syndrome
Reference
Wiki: Seckel syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01230 | P07101 | 7054 | TH | Tyrosine 3-monooxygenase | Homo sapiens |
| PTMD01744 | Q13535 | 545 | ATR | Serine/threonine-protein kinase ATR | Homo sapiens |
| PTMD01312 | Q8N4C6 | 51199 | NIN | Ninein | Homo sapiens |
| PTMD03334 | O94986 | 22995 | CEP152 | Centrosomal protein of 152 kDa | Homo sapiens |
| PTMD13111 | Q9HC77 | 55835 | CENPJ | Centromere protein J | Homo sapiens |
