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FLASH GENE

Symbol

AMTN

contributors: mct - updated : 30-08-2021

HGNC name	amelotin
HGNC id	33188

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AI3B amelogenesis imperfecta, type IIIB
Location	4q13.3      Physical location : 71.384.297 - 71.398.459
Synonym symbol(s)	UNQ689, MGC148132, MGC148133, AI3B

DNA

TYPE	functioning gene
STRUCTURE	14.17 kb     9 Exon(s)

MAPPING

cloned

linked

status

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_212557 9 - 1009 NP_997722 - 209 - Moffatt (2006) NM_001286731 9 - 1006 NP_001273660 - 208 - -

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 Digestive mouth tooth enamel     Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive ameloblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localized to the basal lamina of maturation stage ameloblasts of incisors and unerupted molars
	localized at the interface between the enamel surface and the apical surface of ameloblasts

basic FUNCTION	plays a critical role in the formation of dental enamel
	may be playing a role in cell adhesion
	factor produced by ameloblasts that plays a critical role in the formation of dental enamel
	is a recently discovered secreted enamel protein predominantly expressed during the maturation stage of enamel formation
	distinct expression of AMTN and ODAM and their interaction are likely involved in defining the enamel microstructure at the enamel surface
	AMTN and ODAM, participates in structuring the basal lamina and in mediating attachment of epithelia cells to mineralised tooth surfaces
	critical role for AMTN in the formation of the compact aprismatic enamel surface layer during the maturation stage of amelogenesis
	AMTN and KLK4 function independently, but are both necessary for proper enamel maturation
	AMTN, and ODAM participate in structuring an extracellular matrix with the distinctive capacity of attaching epithelial cells to mineralized surfaces

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	AMTN interacts with itself and with ODAM, but not with amelogenin (AMELX), ameloblastin (AMBN), or enamelin (ENAM)
	IL1B increases AMTN gene transcription in gingival epithelial cells mediated through CEBP1, CEBP2, and YY1 elements in the human AMTN gene promoter

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AI3B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS