A2ML1 Chromosome 12
Alpha-2-macroglobulin like 1
Upload your DNA to see your personal genotypes for variants in A2ML1.
What This Gene Does
This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
Alpha-2-macroglobulin family
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000166535
Associated Conditions (5)
Otitis media
susceptibility to
A2ML1-related disorder
Nonsyndromic otitis media
Noonan syndrome
Key Variants
RS1007463257
Conflicting classifications of pathogenicity
Health Risk
RS1052149878
Conflicting classifications of pathogenicity
Health Risk
RS11047499
Conflicting classifications of pathogenicity
Health Risk
RS117213221
Conflicting classifications of pathogenicity
Otitis media, susceptibility to, A2ML1-related disorder
Health Risk
RS1439490873
Conflicting classifications of pathogenicity
Health Risk
RS148198269
Conflicting classifications of pathogenicity
Health Risk
RS1482427203
Conflicting classifications of pathogenicity
Health Risk
RS150488553
Conflicting classifications of pathogenicity
Otitis media, susceptibility to, A2ML1-related disorder
Health Risk
RS1720800547
Conflicting classifications of pathogenicity
Health Risk
RS182743597
Conflicting classifications of pathogenicity
Health Risk
RS184386564
Conflicting classifications of pathogenicity
Otitis media, susceptibility to, A2ML1-related disorder
Health Risk
RS184575465
Conflicting classifications of pathogenicity
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749520022 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750524549 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753161669 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753186530 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753841404 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, Noonan syndrome, A2ML1-related disorder |
| RS754169968 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS755702632 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75617691 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS756640163 | Health Risk | Conflicting classifications of pathogenicity | Otitis media, susceptibility to, Otitis media |
| RS757200771 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757576013 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758305694 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759217676 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762232957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762406949 | Health Risk | Conflicting classifications of pathogenicity | Otitis media, susceptibility to, Otitis media |
| RS763783506 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769726608 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770241678 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770246364 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771684169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77431272 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS775011475 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775772721 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776004500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77657214 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS778857180 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS780262392 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780281065 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780868782 | Health Risk | Conflicting classifications of pathogenicity | Otitis media, susceptibility to, Otitis media |
| RS79889829 | Health Risk | Conflicting classifications of pathogenicity | A2ML1-related disorder, A2ML1-related disorder |
| RS866812216 | Health Risk | Conflicting classifications of pathogenicity | Otitis media, susceptibility to, Otitis media |
| RS868320081 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS962354900 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1409944554 | Health Risk | Likely pathogenic | Otitis media, susceptibility to, Otitis media |