alpha 1 Fetoprotein ist ein Gen, das durch das Symbol AFP kodiert wird. Andere Namen sind: Alpha-fetoprotein; Alpha-1-fetoprotein; Alpha-fetoglobulin; AFP; HPAFP. alpha 1 Fetoprotein hat eine Masse von 68.68kDa, eine Aminosäurelänge von 609, und ist an folgenden Krankheiten beteiligt: Alpha-fetoprotein deficiency; Alpha-fetoprotein, hereditary persistence.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties.
Entrez Zusammenfassung
This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly.
Gewebespezifität
Plasma. Synthesized by the fetal liver and yolk sac.
Rolle bei Krankheiten
Alpha-fetoprotein deficiency: A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development.
Alpha-fetoprotein, hereditary persistence: A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life.
Sequenzähnlichkeiten
Belongs to the ALB/AFP/VDB family.
Posttranslationale Modifikation
Independent studies suggest heterogeneity of the N-terminal sequence of the mature protein and of the cleavage site of the signal sequence.