FAM20A Gene: Golgi-associated Secretory Pathway Regulator
FAM20A: Key regulator of biomineralization and dental enamel formation
Gene Information Card
| Symbol | FAM20A |
|---|---|
| Full Name | FAM20A, golgi associated secretory pathway pseudokinase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 54757 ncbi.nlm.nih.gov/gene/54757 |
| Ensembl ID | ENSG00000108950 |
| UniProt ID | Q96MK3 |
| OMIM ID | 611062 |
| HGNC ID | HGNC:23015 |
| Aliases | AI1G, AI1H, DMP-7, FLJ20553, FP2747 |
Description
FAM20A encodes a Golgi-associated secretory pathway pseudokinase that plays a critical role in biomineralization, particularly in dental enamel formation. It is essential for the secretion and activation of matrix metalloproteinase-20 (MMP20) and kallikrein-4 (KLK4), which process enamel matrix proteins. Loss-of-function mutations cause enamel renal syndrome and amelogenesis imperfecta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Enamel renal syndrome | Loss-of-function mutations impair enamel matrix protein processing and renal function | OMIM #204690 |
| Amelogenesis imperfecta, type IG | Defective FAM20A disrupts enamel biomineralization | OMIM #614832 |
| Amelogenesis imperfecta, type IH | Similar mechanism as type IG, with hypoplastic enamel | OMIM #616221 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.2 | Medium |
| Salivary gland | 6.5 | Medium |
| Thyroid | 4.1 | Low |
| Testis | 3.8 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.34C>T (p.Arg12*) | Nonsense | Rare | Loss of function |
| c.67C>T (p.Arg23*) | Nonsense | Rare | Loss of function |
| c.406C>T (p.Arg136*) | Nonsense | Rare | Loss of function |
| c.1189G>A (p.Gly397Arg) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that truncate or destabilize the protein, impairing Golgi secretory pathway function and enamel matrix processing.
Gain of Function (GOF)
Not reported for FAM20A.
Dominant Negative (DN)
Not reported for FAM20A.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Enamel formation (Reactome: R-HSA-6809371)
• BMP signaling pathway (KEGG: hsa04350)
Protein Summary
FAM20A is a 541-amino acid Golgi-associated pseudokinase that lacks catalytic activity but is essential for proper secretion of enamel matrix proteases. It forms a complex with FAM20C to regulate phosphorylation of secreted proteins. Mutations lead to defective enamel and renal calcification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM20A Knockout HEK293 Cell Line | EDJ-KQ2191 | Human | 54757 | Details Get a Quote |
| FAM20A Knockout HeLa Cell Line | EDJ-KQ56469 | Human | 54757 | Details Get a Quote |
| FAM20A Knockout A-549 Cell Line | EDJ-KQ64960 | Human | 54757 | Details Get a Quote |
| FAM20A Knockout HCT 116 Cell Line | EDJ-KQ73405 | Human | 54757 | Details Get a Quote |
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