background:
The DGCR2 gene encodes a novel putative adhesion receptor protein, which may play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22.
Function:
Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.
Subcellular Location:
Membrane; Single pass type I membrane protein.
Tissue Specificity:
Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.
Similarity:
Contains 1 SLCtype lectin domain.
Contains 1 LDL-receptor class A domain.
Contains 1 VWFC domain.
Database links:
UniProtKB/Swiss-Prot: P98153.1
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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