Multiple Epidermal Growth Factor-Like Domains 8

Alternative Names

MEGF8
Epidermal Growth Factor-Like 4
EGFL4

Length

53,131 bases

No. of Exons

No. of isoforms

Protein Name

Multiple epidermal growth factor-like domains protein 8

Molecular Mass

303100 Da

Amino Acid Count

2845

Genomic Location

chr19:42,325,635-42,378,765

Gene Map Locus

19q13.2

Description

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. [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_001271938.2:c.3550+3_3550+4dup	Saudi Arabia	NC_000019.10:g.42353130_42353131dup		Uncertain Significance	Carpenter Syndrome 2	NG_033030.1:g.32522_32523dup; NM_001271938.2:c.3550+3_3550+4dup; NP_001258867.1:p.?
NM_001271938.2:c.7270-2A>G	Saudi Arabia	NC_000019.10:g.42375505A>G		Likely Pathogenic	Carpenter Syndrome 2	NG_033030.1:g.54897A>G; NM_001271938.2:c.7270-2A>G; NP_001258867.1:p.?

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External Links

https://medlineplus.gov/genetics/gene/megf8/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=MEGF8

Contributors

Asha Deepthi: 24.01.2023

Edit History

Asha Deepthi: 24.01.2023

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