Multiple Epidermal Growth Factor-Like Domains 10

Alternative Names

  • MEGF10
  • Kiaa1780
Back to search Result
OMIM Number

612453

NCBI Gene ID

84466

Uniprot ID

Q96KG7

Length

231,923 bases

No. of Exons

31

No. of isoforms

2

Protein Name

Multiple epidermal growth factor-like domains protein 10

Molecular Mass

122205 Da

Amino Acid Count

1140

Genomic Location

chr5:127,229,299-127,461,221

Gene Map Locus
5q23.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001256545.2:c.1557delUnited Arab EmiratesNC_000005.10:g.127420174delPathogenicMyopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-OnsetNG_032072.2:g.134411del; NM_001256545.2:c.1557del; NP_001243474.1:p.Trp520GlyfsTer171057518682374300
© CAGS 2022. All rights reserved.