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FLASH GENE

Symbol

AMELX

contributors: mct/npt - updated : 18-01-2021

HGNC name	amelogenin (amelogenesis imperfecta 1, X-linked)
HGNC id	461

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AIH1 amelogenesis imperfecta 1, hypoplastic/hypomaturation
Location	Xp22.2      Physical location : 11.311.532 - 11.318.880
Synonym name	amelogenin (X chromosome, amelogenesis imperfecta 1)
	leucine-rich amelogenin peptide
Synonym symbol(s)	AMG, AMGX, ALGN, AMGL, LRAP

DNA

TYPE	functioning gene
STRUCTURE	7.35 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	ZBTB17 binds to an MRE (MIZ-1 binding element) of the AMELX proximal promoter region (bp, -170 to -25)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - DXS89 - STS - DXS237 - DXS278 - KAL1 KAL1 - DXS143 - DXS70 - DXS85 - AMELX - DXS1145 - DXS16 - DXS9 - DXS43 - DXS207 - cen
Authors	Lagerström (90), Schlessinger (93), Herrell (94)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001142 5 - 793 NP_001133 - 191 - 2017 28395292 NM_182680 7 - 835 NP_872621 - 205 - 2017 28395292 NM_182681 5 - 745 NP_872622 - 175 - 2017 28395292 variant 4 - - - isoform 4 - 59 - 2017 28395292 also called LRAP (leucine-rich amelogenin protein) the first 33 and the last 26 residues of full-length amelogenin proximity of the C-terminus, LRAP, with the HAP crystal

EXPRESSION

Type

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 Digestive tooth

cells

System Cell Pubmed Species Stage Rna symbol Digestive meloblast

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

charged C-terminus interacting directly with HAP, and contributing to the control of enamel crystal growth by the organic matrix

HOMOLOGY

Homologene

FAMILY

amelogenin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	major proteins expressed by ameloblasts during development of the crown (enamel and dentin)(Swanson 2006)
	amelogenin and amelogenin-like molecules regulate mesenchymal cell behavior (Swanson 2006)
	involved with ENAM in subsequent steps controling enamel hardness an growth
	regulating the formation of crystallites during
	the secretory stage of tooth enamel development
	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 the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but well-conserved alternative splicing and postsecretional processing have been identified
	is the main component of the developing tooth enamel matrix and is essential for enamel thickness and structure
	ZBTB17 is an essential transcriptional activator of AMELX, which is critical in odontogenesis and matrix mineralization in the developing tooth
	TFIP11, AMBN, and AMELX play an important role in dental caries

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting wirth ENAM
	may interact with AMBN to form a heteromolecular assembly
	AMELX interacts with the transmembrane proteins CD63 and LAMP (lysosome-associated membrane protein) 1, which are involved in endocytosis (Zou 2007)
	possible cooperation between ENAMEL and AMELX in macromolecular coassembly and in controlling enamel mineral formation
	AMTN interacts with itself and with ODAM, but not with amelogenin (AMELX), ameloblastin (AMBN), or enamelin (ENAM)
	effect of AMELX overexpression in upregulating amelogenins, MMP20 and SATB1, suggests a role in protein regulation critical to ameloblast secretion and matrix processing, to form a mineralized enamel matrix
	DLX3 promotes the expression of the enamel matrix protein (EMP) genes AMELX, ENAM, KLK4, and ODAM in amelogenesis, while mutant-DLX3 disrupts this regulatory function
	ameloblasts responsible for enamel formation express MMP20, an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) and ameloblastin (AMBN)
	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)

AIH1

Susceptibility

to dental erosion to Molar-Incisor Hypomineralization

Variant & Polymorphism other	significant associations between enamel loss and AMELX, tuftelin 1 (TUFT1), and tuftelin-interacting protein 11 (TFIP11)
	rs5979395 associated with Molar-Incisor Hypomineralization

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Amelx null (KO) mice have hypoplastic, disorganized enamel similar to that of human patients with mutations in the AMELX gene, and provide a model system for studies of the enamel defect amelogenesis imperfecta (Gibson 2009)