Enamelin

Alternative Names

ENAM

Length

58,073 bases

No. of Exons

No. of isoforms

Protein Name

Enamelin

Molecular Mass

128785 Da

Amino Acid Count

1142

Genomic Location

chr4:70,628,744-70,686,816

Gene Map Locus

4q13.3

Description

The ENAM gene codes for enamelin, an enamel specific protein that is secreted by ameloblasts. It is the largest protein in the enamel matrix of developing teeth, and is known to be involved in the mineralization and structural organization of the enamel.

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_031889.2:c.1943T>C	Lebanon	NC_000004.12:g.70643369T>C	Benign	Benign		NG_013024.1:g.19626T>C; NM_031889.2:c.1943T>C; NP_114095.2:p.Ile648Thr	7671281	261984
NM_031889.2:c.2288G>A	Lebanon	NC_000004.12:g.70643714G>A	Benign	Benign		NG_013024.1:g.19971G>A ; NM_031889.2:c.2288G>A; NP_114095.2:p.Arg763Gln	3796704	261985
NM_031889.2:c.534+161_534+162insGAGA	Lebanon	NC_000004.12:g.70636055_70636056insGAGA		Benign		NG_013024.1:g.12312_12313insGAGA ; NM_031889.2:c.534+161_534+162insGAGA; NP_114095.2:p.?	201212976
NM_031889.2:c.588+1del	Lebanon	NC_000004.12:g.70637844del	Pathogenic	Pathogenic	Amelogenesis Imperfecta Type IB	NG_013024.1:g.14101del; NM_031889.2:c.588+1del; NP_114095.2:p.?	760419924	1192504

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External Links

https://ghr.nlm.nih.gov/gene/ENAM https://www.genecards.org/cgi-bin/carddisp.pl?gene=ENAM https://www.ncbi.nlm.nih.gov/gene/10117

Contributors

Pratibha Nair: 08.10.2018

Edit History

Pratibha Nair: 06.01.2019

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