Gene: MEGF8

Alternate names for this Gene: C19orf49|CRPT2|EGFL4|SBP1

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: multiple EGF like domains 8

Type of Gene: protein-coding

rs397515427 in MEGF8 gene and CARPENTER SYNDROME 2 PMID 23063620 2012 Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

rs76757277 in MEGF8 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.