产品名称
AMMR1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/9949
Human Swissprot No.
Q9Y4X0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y4X0/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/56068
Mouse Swissprot No.
Q9JHT5
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9JHT5
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
