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:
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.
Subcellular Location:
Membrane.
DISEASE:
Defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect type 2 (AVSD2) [MIM:606217]. 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.
Contains 2 EGF-like domains.
Contains 2 FU (furin-like) repeats.
Database links:
Entrez Gene: 78987 Human
Entrez Gene: 171508 Mouse
Entrez Gene: 312638 Rat
Omim: 607170 Human
SwissProt: Q96HD1 Human
SwissProt: Q91XD7 Mouse
SwissProt: Q4V7F2 Rat
Unigene: 9383 Human
Unigene: 41593 Mouse
Unigene: 6461 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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