MEGF8

The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene.

Full Name

MULTIPLE EGF LIKE DOMAINS 8

Function

Acts as a negative regulator of hedgehog signaling.

Biological Process

Animal organ morphogenesis Source: GO_Central
BMP signaling pathway Source: CAFA
Cell migration involved in gastrulation Source: UniProtKB
Coronary vasculature development Source: Ensembl
Craniofacial suture morphogenesis Source: UniProtKB
Determination of digestive tract left/right asymmetry Source: UniProtKB
Determination of heart left/right asymmetry Source: UniProtKB
Embryonic heart tube left/right pattern formation Source: CAFA
Embryonic heart tube morphogenesis Source: CAFA
Embryonic limb morphogenesis Source: CAFA
Embryonic skeletal system morphogenesis Source: CAFA
Epiboly involved in gastrulation with mouth forming second Source: UniProtKB
Fasciculation of sensory neuron axon Source: CAFA
Left/right pattern formation Source: UniProtKB
Limb morphogenesis Source: UniProtKB
Negative regulation of smoothened signaling pathway Source: UniProtKB
Positive regulation of axon extension involved in axon guidance Source: CAFA
Regulation of gene expression Source: CAFA
Tissue development Source: GO_Central

Cellular Location

Membrane

Involvement in disease

Carpenter syndrome 2 (CRPT2):
An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.

Topology

Extracellular: 28-2647
Helical: 2648-2668
Cytoplasmic: 2669-2845