FREM1 Gene: Fraser Extracellular Matrix Complex Subunit 1
FREM1 in Craniofacial Development and Renal Agenesis
Gene Information Card
| Symbol | FREM1 |
|---|---|
| Full Name | Fras1 related extracellular matrix 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 158326 ncbi.nlm.nih.gov/gene/158326 |
| Ensembl ID | ENSG00000164946 |
| UniProt ID | Q5H8C1 |
| OMIM ID | 608944 |
| HGNC ID | 23399 |
| Aliases | C9orf143, FRAS1-related extracellular matrix protein 1, MOTA |
Description
FREM1 encodes a member of the FRAS1-related extracellular matrix protein family. The protein is a component of the Fraser extracellular matrix complex, essential for epithelial-mesenchymal interactions during embryonic development. It plays a critical role in craniofacial, renal, and skin development. Mutations in FREM1 cause Fraser syndrome and Manitoba-oculotrichoanal (MOTA) syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fraser syndrome | Loss-of-function mutations disrupt extracellular matrix adhesion, leading to cryptophthalmos, syndactyly, and renal agenesis. | ClinVar, OMIM |
| Manitoba-oculotrichoanal (MOTA) syndrome | Homozygous or compound heterozygous FREM1 mutations impair craniofacial and anorectal development. | OMIM, NCBI |
| Bifid nose with or without renal agenesis | Missense variants in FREM1 disrupt protein folding and matrix assembly. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Skin | 8.3 | Low |
| Lung | 6.1 | Low |
| Placenta | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney model |
| HaCaT | 9.8 | Keratinocyte expression relevant to skin development |
| A549 | 3.4 | Low expression in lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.496C>T (p.Arg166*) | Nonsense | Rare | Loss of function; associated with MOTA syndrome |
| c.658G>A (p.Gly220Arg) | Missense | Rare | Impaired protein secretion; Fraser syndrome |
| c.1111delC | Frameshift | Rare | Premature truncation; renal agenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with Fraser and MOTA syndromes.
Gain of Function (GOF)
Not reported for FREM1.
Dominant Negative (DN)
Not reported for FREM1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • cell adhesion |
| • epithelial development | • kidney development |
| • skin morphogenesis |
Pathways
• Fraser extracellular matrix complex assembly
• Epithelial-mesenchymal signaling in development
Protein Summary
FREM1 is a secreted extracellular matrix protein containing multiple calx-beta and EGF-like domains. It forms a complex with FRAS1 and FREM2, anchoring epithelial basement membranes to mesenchymal cells. The protein is critical for maintaining tissue integrity during organogenesis, particularly in the kidney, skin, and craniofacial region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FREM1 Knockout HEK293 Cell Line | EDJ-KQ2975 | Human | 158326 | Details Get a Quote |
| FREM1 Knockout HeLa Cell Line | EDJ-KQ58783 | Human | 158326 | Details Get a Quote |
| FREM1 Knockout A-549 Cell Line | EDJ-KQ67265 | Human | 158326 | Details Get a Quote |
| FREM1 Knockout HCT 116 Cell Line | EDJ-KQ75664 | Human | 158326 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
