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FLASH GENE

Symbol

ENAM

contributors: mct/shn - updated : 07-01-2021

HGNC name	enamelin
HGNC id	3344

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	19.35 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D4S392 - D4S2969 - ENAM - D4S1543 - D4S2931 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031889 9 - 5674 NP_114095 - 1142 - 2019 31478359 NM_001368133 2 - 4943 NP_001355062 - 924 - 2019 31478359

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system prostate     moderately Urinary kidney       moderately

cells

System Cell Pubmed Species Stage Rna symbol Digestive ameloblast Digestive odontoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 39 AA signal peptide
	two conserved LEF1 responsive elements

HOMOLOGY

interspecies	ortholog to Enam, Mus musculus
	ortholog to ENAM, Pan troglodytes

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	extracellular matrix protein of developing teeth

basic FUNCTION	involved in the extension of enamel during the secretory stage of dental enamel formation (early stage of enamel development)
	involved in the mineralization and structural organization of enamel
	ENAM and AMELX are vital proteins in enamel formation
	ENAM with AMELX is intimately involved in mineral induction at the beginning of enamel formation
	is essential for ameloblast integrity and enamel formation
	is an acellular material formed by the intricate process of amelogenesis
	ENAM plays the greatest functional role at the enamel-dentine junction (EDJ)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	tooth development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	beta-catenin/LEF1 complex
	possible cooperation between ENAMEL and AMELX in macromolecular coassembly and in controlling enamel mineral formation
	AMELX alone is a weak promoter of nucleation, but addition of ENAM enhanced nucleation rates in a highly nonlinear, nonmonotonic manner reaching a sharp maximum at a ratio of 1:50 enamelin/amelogenin

cell & other

REGULATION

activated by

hypoxia (increased expression of the structural enamel matrix genes AMELX, AMBN, and ENAM, and MMP20)

ASSOCIATED DISORDERS

corresponding disease(s)

AIH2 , AI1C

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in late stage of clear cell renal cell carcinoma (ccRCC)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ENU-induced dominant mouse AIH2 mutations, M100395, M100514 and M100521 caused AI-like phenotypes in the incisors and molars of the affected individual