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Group enriched (esophagus, tonsil, cervix, uterine)
Protein evidence
Evidence at protein level
Protein expression
Selective expression in squamous epithelia.
DATA RELIABILITY
Data reliability description
Antibody staining mainly consistent with RNA expression data. Secreted protein, tissue location of RNA and protein might differ and correlation is complex.
RNA tissue category: Group enriched (esophagus, tonsil, cervix, uterine)
GENE INFORMATION
Gene name
A2ML1 (HGNC Symbol)
Synonyms
CPAMD9, FLJ25179
Description
Alpha-2-macroglobulin-like 1 (HGNC Symbol)
Entrez gene summary
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]