A2ML1
Alpha-2-Macroglobulin Like 1
Gene Information Card
| Symbol | A2ML1 |
|---|---|
| Full Name | alpha-2-macroglobulin like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 144568 ncbi.nlm.nih.gov/gene/144568 |
| Ensembl ID | ENSG00000166535 |
| UniProt ID | A8K2U0 |
| OMIM ID | 610627 |
| HGNC ID | 23336 |
| Aliases | CPAMD9, p170, FLJ25179 |
Description
A2ML1 encodes a member of the alpha-2-macroglobulin family of protease inhibitors. The protein functions as a broad-spectrum protease inhibitor and may play roles in immune modulation and tissue remodeling. Mutations in A2ML1 have been associated with Noonan syndrome and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome | Missense mutations in A2ML1 are thought to alter protease inhibitor activity, contributing to RAS-MAPK pathway dysregulation. | ClinVar; PMID: 24803665 |
| Squamous cell carcinoma (head and neck) | Somatic mutations and copy number alterations in A2ML1 may affect tumor microenvironment and immune evasion. | COSMIC; PMID: 28270527 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Lung | 6.1 | Low |
| Salivary gland | 15.2 | Medium |
| Prostate | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.5 | High expression |
| A549 (lung carcinoma) | 7.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226G>A (p.Gly76Arg) | Missense | <0.01% (gnomAD) | Associated with Noonan syndrome; potential loss of inhibitory function |
| c.1048C>T (p.Arg350Trp) | Missense | <0.01% (gnomAD) | Reported in head and neck squamous cell carcinoma; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the thiol ester domain may reduce protease inhibitor activity.
Gain of Function (GOF)
Not established.
Dominant Negative (DN)
Proposed for some Noonan syndrome-associated variants, but not confirmed.
View complete mutation data：
Gene Ontology (GO)
| • protease binding | • serine-type endopeptidase inhibitor activity |
| • extracellular space | • protein homodimerization activity |
Pathways
• RAS signaling pathway
• Complement and coagulation cascades
Protein Summary
A2ML1 is a secreted protease inhibitor belonging to the alpha-2-macroglobulin family. It contains a thiol ester domain and a receptor-binding domain, enabling broad-spectrum inhibition of proteases. The protein is expressed in epithelial tissues and may modulate extracellular proteolysis, immune responses, and cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| A2ML1 Knockout HEK293 Cell Line | EDJ-KQ10423 | Human | 144568 | Details Get a Quote |
| A2ML1 Knockout HeLa Cell Line | EDJ-KQ58511 | Human | 144568 | Details Get a Quote |
| A2ML1 Knockout A-549 Cell Line | EDJ-KQ66999 | Human | 144568 | Details Get a Quote |
| A2ML1 Knockout HCT 116 Cell Line | EDJ-KQ75400 | Human | 144568 | Details Get a Quote |
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