AFP Chromosome 4

Alpha fetoprotein
5 variants 3 Health Risk 2 Trait

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What This Gene Does
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 hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. 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. [provided by RefSeq, Oct 2019]
Gene Info
Gene Group
Albuminoid family
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000081051
Associated Conditions (4)
Premature ovarian failure
Alpha-fetoprotein deficiency
Alpha-fetoprotein
hereditary persistence of
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS146692547 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS121912685 Health Risk Pathogenic Alpha-fetoprotein deficiency, Alpha-fetoprotein deficiency
RS387906580 Health Risk Pathogenic Alpha-fetoprotein deficiency, Alpha-fetoprotein deficiency
RS1719498256 Trait Affects Alpha-fetoprotein, hereditary persistence of, Alpha-fetoprotein
RS587776861 Trait Affects Alpha-fetoprotein, hereditary persistence of, Alpha-fetoprotein
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