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A2ML1


Official Full Name
alpha-2-macroglobulin like 1
Organism
Homo sapiens
Gene ID
144568
Background
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]
Synonyms
HL-1; ASGPR; ASGPR1; CLEC4H1

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AD00410Z Human A2ML1 adenoviral particles Inquiry
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SHH228282 shRNA set against Human A2ML1 (NM_144670.4) Inquiry
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CDCB189423 Rabbit A2ML1 ORF clone (XM_008259799.1) Inquiry
MiUTR4H-TG00003 A2ML1 miRNA 3'UTR clone Inquiry
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