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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01230P071017054
TH
Tyrosine 3-monooxygenase
Homo sapiens
PTMD01744Q13535545
ATR
Serine/threonine-protein kinase ATR
Homo sapiens
PTMD01312Q8N4C651199
NIN
Ninein
Homo sapiens
PTMD03334O9498622995
CEP152
Centrosomal protein of 152 kDa
Homo sapiens
PTMD13111Q9HC7755835
CENPJ
Centromere protein J
Homo sapiens