cysteine-rich with EGF-like domain protein 1 (CRELD1, CIRRIN, UNQ188/PRO214)

Structure

• belongs to the CRELD family
• contains 2 EGF-like domains
• contains 2 FU repeats (furin-like repeats)

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• expressed in fetal lung, liver, kidney, adult heart, brain, skeletal muscle > placenta, fetal brain, adult lung, liver, kidney, pancreas

Pathology

• defects in CRELD1 may be the cause of susceptibility to atrioventricular septal defect 2 (AVSD2)

More general terms

• transmembrane 2e protein

Database

• OMIM: https://mirror.omim.org/entry/600309
• OMIM: https://mirror.omim.org/entry/606217
• OMIM: https://mirror.omim.org/entry/607170
• UniProt: http://www.uniprot.org/uniprot/Q96HD1.html