hemicentin-1 (fibulin-6, FIBL-6, HMCN1 FIBL6)

Structure

• contains 7 EGF-like domains
• contains 44 Ig-like C2-type domains (immunoglobulin-like)
• contains 1 nidogen G2 beta-barrel domain
• contains 6 TSP type-1 domains
• contains 1 VWFA domain

Alternative splicing

named isoforms=3

Expression

• isoforms 1 & 2 are expressed in skin fibroblasts & retinal pigment epithelium cells

Pathology

• defects in HMCN1 are the cause of age-related macular degeneration 1

More general terms

• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/603075
• OMIM: https://mirror.omim.org/entry/608548
• UniProt: http://www.uniprot.org/uniprot/Q96RW7.html