Engulfment and Cell Motility Gene 1

Alternative Names

ELMO1
CED12, C. elegans, Homolog of, 1

Length

596,421 bases

No. of Exons

No. of isoforms

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

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014800.11:c.620C>T	Saudi Arabia	NC_000007.14:g.37224960G>A		Likely Pathogenic	Spermatogenic Failure 1	NM_014800.11:c.620C>T; NP_055615.8:p.Ser207Leu	1205672205

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ELMO1 https://www.ncbi.nlm.nih.gov/gene/9844

Contributors

Pratibha Nair: 16.03.2023

Edit History

Pratibha Nair: 16.03.2023

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