FAM20A FAM20A golgi associated secretory pathway pseudokinase
Gene ID: 54757, updated on 2-Nov-2024Gene type: protein coding
Also known as: AI1G; AIGFS; FP2747
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- Go to complete Gene record for FAM20A
- Go to Variation Viewer for FAM20A variants
Summary
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amelogenesis imperfecta type 1G | See labs |
Genomic context
- Location:
- 17q24.2
- Sequence:
- Chromosome: 17; NC_000017.11 (68535116..68601367, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FAM20A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FAM20A @ LOVD
- 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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