ALX3: Aristaless-Like Homeobox 3 Gene
Key regulator of craniofacial development and frontonasal dysplasia
Gene Information Card
| Symbol | ALX3 |
|---|---|
| Full Name | Aristaless-Like Homeobox 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 343 ncbi.nlm.nih.gov/gene/343 |
| Ensembl ID | ENSG00000156150 |
| UniProt ID | Q9NPJ3 |
| OMIM ID | 603792 |
| HGNC ID | 449 |
| Aliases | ALX3, FND, MGC138290 |
Description
ALX3 encodes a homeodomain-containing transcription factor belonging to the aristaless-like family. It is essential for craniofacial development, particularly the formation of the frontonasal and maxillary processes. Mutations in ALX3 cause autosomal recessive frontonasal dysplasia type 1 (FND1), characterized by hypertelorism, broad nasal root, and midline facial clefts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Frontonasal Dysplasia 1 (FND1) | Loss-of-function mutations in ALX3 disrupt homeodomain DNA binding, impairing transcriptional regulation of genes required for midline facial development. | OMIM #136760; ClinVar pathogenic variants |
| Craniofacial anomalies (non-syndromic) | Rare missense variants may alter protein stability or DNA-binding affinity, contributing to isolated hypertelorism or nasal malformations. | PubMed case reports; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Nasal epithelium | 12.5 | Medium |
| Frontal cortex | 8.2 | Low |
| Salivary gland | 6.1 | Low |
| Skin | 4.3 | Low |
| Bone marrow | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 5.8 | Low expression |
| HeLa (cervical carcinoma) | 3.2 | Not detected |
| K562 (leukemia) | 1.1 | Not detected |
| MCF7 (breast cancer) | 2.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.271C>T (p.Arg91*) | Nonsense | Rare (FND1) | Premature stop; loss of homeodomain; loss-of-function |
| c.404G>A (p.Arg135Gln) | Missense | Rare (FND1) | Disrupts DNA-binding; loss-of-function |
| c.1A>G (p.Met1?) | Start loss | Rare (FND1) | No protein translation; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations leading to truncated or absent ALX3 protein; missense mutations in the homeodomain that abolish DNA binding.
Gain of Function (GOF)
Not reported for ALX3.
Dominant Negative (DN)
Not reported; ALX3-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Sequence-specific DNA binding (GO:0043565) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) | • Anterior/posterior pattern specification (GO:0009952) |
| • Forebrain development (GO:0030900) | • Facial morphogenesis (GO:0060325) |
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by homeobox proteins (KEGG: hsa04350)
Protein Summary
ALX3 is a 326-amino acid transcription factor containing a paired-like homeodomain (residues 95-154) that binds ATTA-rich DNA motifs. It localizes to the nucleus and regulates genes involved in neural crest cell migration and craniofacial chondrogenesis. The protein is highly conserved in vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALX3 Knockout HEK293 Cell Line | EDJ-KQ3382 | Human | 257 | Details Get a Quote |
| ALX3 Knockout HeLa Cell Line | EDJ-KQ52602 | Human | 257 | Details Get a Quote |
| ALX3 Knockout A-549 Cell Line | EDJ-KQ61082 | Human | 257 | Details Get a Quote |
| ALX3 Knockout HCT 116 Cell Line | EDJ-KQ69564 | Human | 257 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
