Family

Extracellular matrix protein FRAS1 (IPR032822)

Short name: FRAS1

Family relationships

None.

Description

FRAS1 is a is an extracellular matrix protein located in the sublamina densa of various embryonic basement membranes [PMID: 21182980]. It forms a ternary complex in the basement membrane with FREM1 and FREM2 during epidermal development. Mutations in the FRAS1 gene cause Fraser syndrome, a rare disease with autosomal recessive inheritance characterised by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies [PMID: 26043503].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005604 basement membrane
GO:0031012 extracellular matrix

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER