Engulfment and Cell Motility Gene 1

Alternative Names

  • ELMO1
  • CED12, C. elegans, Homolog of, 1

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

606420

NCBI Gene ID

9844

Uniprot ID

Q92556

Length

596,421 bases

No. of Exons

31

No. of isoforms

3

Protein Name

Engulfment and cell motility protein 1

Molecular Mass

83829 Da

Amino Acid Count

727

Genomic Location

chr7:36,852,906-37,449,326

Gene Map Locus
7p14.2-p14.1

Description

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014800.11:c.620C>TSaudi ArabiaNC_000007.14:g.37224960G>ALikely PathogenicSpermatogenic Failure 1NM_014800.11:c.620C>T; NP_055615.8:p.Ser207Leu1205672205
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