CRELD1

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]

Description

cysteine rich with EGF like domains 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas)

Chromosome

3:p25.3 (9933816 - 9945406)

Ensembl ID

ENSG00000163703  (ver. 99.38)

Orthologs

Mouse Creld1: ENSMUSG00000030284

UniProt

Q96HD1

neXtProt

NX_Q96HD1

Human splice variants
Mouse splice variants