基因名称(Gene Name)
CRELD1 CIRRIN UNQ188/PRO214
蛋白名称
Cysteine-rich with EGF-like domain protein 1
免疫原
Synthesized peptide derived from human protein . at AA range: 350-430
特异性
CREL1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
A4GNT; Alpha-1; 4-N-acetylglucosaminyltransferase; Alpha4GnT
背景
This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010],
功能
alternative products:Additional isoforms seem to exist,disease:Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect 2 (AVSD2) [MIM:606217, 600309]. AVSD is a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. The complete form of AVSD involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum. A less severe form, known as partial AVSD or ostium primum atrial septal defect has a deficiency of the atrial septum. Complete AVSD are clinically apparent at birth, whereas less severe forms, such as an isolated cleft mitral valve or small defects of the atrial or ventricular septa may go undetected.,similarity:Belongs to the CRELD family.,similarity:Contains 2 EGF-like domains.,similarity:Contains 2 FU (furin-like) repeats.,tissue specificity:Highly expressed in fetal lu
