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The protein encoded by MEGF8 is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains.
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mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog (显示 SHH 抗体) and nodal family members.
Megf8 attenuates signaling through the Hedgehog (显示 SHH 抗体) pathway by reducing levels of Smoothened at the cell surface and the primary cilium. Mutations in Megf8 lead to cardiac defects, limb defects, left-right patterning defects and craniofacial anomalies.
Megf8 is involved in mediating BMP4 (显示 BMP4 抗体) signaling and guidance of developing trigeminal ganglia axons.
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.
EGF-like domain-containing protein 4
, EGF-like-domain, multiple 4
, HBV pre-s2 binding protein 1
, epidermal growth factor-like protein 4
, multiple epidermal growth factor-like domains protein 8
, EGF-like protein 4
, multiple EGF-like domains protein 8
, multiple EGF-like domain protein 4