Description: A DNA sequence encoding the mouse CRELD1 (NP_598691.1) (Met1-Glu362) was expressed with a C-terminal polyhistidine tag.
NCBI and Uniprot Product Information
Uniprot Description
CRELD1: Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2). 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. Belongs to the CRELD family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 6 E3|6 52.77 cM