Molecular weight (DA)
46kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 350-430
Specificity
CREL1 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
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
Gene Name
CRELD1 CIRRIN UNQ188/PRO214
Protein name
Cysteine-rich with EGF-like domain protein 1
Human protein sequence Database
Q96HD1
Mouse protein sequence database
Q91XD7
Rat protein sequence database
Q4V7F2
Cellular localization
Membrane ; Multi-pass membrane protein .
Tissue expression
Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
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