AFP Chromosome 4
Alpha fetoprotein
Upload your DNA to see your personal genotypes for variants in AFP.
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 |