MEGF10

Also known as EMARDD, multiple EGF like domains 10, SR-F3

Multiple EGF-like-domains 10 is a protein that in humans is encoded by the MEGF10 gene.

Gene data

MEGF10

Name: multiple EGF like domains 10
Type: protein-coding
Aliases: CMYO10A, CMYO10B, CMYP10A, CMYP10B, EMARDD, SR-F3

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012].

via MyGene.info

Gene · Ensembl

multiple EGF like domains 10

Symbol: MEGF10
Biotype: Protein coding
Organism: Homo sapiens
Location: 5:127,290,796-127,465,737
Strand: Forward (+)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 23771
genomic end: 127465737
exact match: identifiers.org/ncbigene/84466
genomic start: 127290796
cytogenetic location: 5q23.2

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Multiple EGF-like-domains 10 is a protein that in humans is encoded by the MEGF10 gene.

MEGF10 is a regulator of satellite cell myogenesis and interacts with Notch1 in myoblasts. It has been shown to be the cause of early-onset myopathy, areflexia, respiratory distress and dysphagia.