AFP alpha fetoprotein
Gene ID: 174, updated on 27-Nov-2024Gene type: protein coding
Also known as: AFPD; FETA; HPAFP
- See all available tests in GTR for this gene
- Go to complete Gene record for AFP
- Go to Variation Viewer for AFP variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk. GeneReviews: Not available | |
| Alpha-fetoprotein deficiency | See labs |
| Alpha-fetoprotein, hereditary persistence of | not available |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available |
Genomic context
- Location:
- 4q13.3
- Sequence:
- Chromosome: 4; NC_000004.12 (73436221..73456174)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AFP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AFP database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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