Gene Symbol | MEGF8 |
Entrez Gene ID | 1954 |
Full Name | multiple EGF like domains 8 |
Synonyms | C19orf49,CRPT2,EGFL4,SBP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2012]. |
Disorder MIM: | |
Disorder Html: | Carpenter syndrome 2, 614976 (3) |