免疫原
Synthesized peptide derived from human AMMR1 AA range: 12-62
特异性
This antibody detects endogenous levels of AMMR1 at Human/Mouse
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（Background）
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010],
功能
disease:Defects in AMMECR1 may be a cause of AMME complex [MIM:300194]; also known as Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis. The AMME complex is a contiguous gene deletion syndrome.,similarity:Contains 1 AMMECR1 domain.,
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