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FLASH GENE

Symbol

AMBN

contributors: mct/pgu - updated : 18-08-2021

HGNC name	ameloblastin (enamel matrix protein)
HGNC id	452

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AI1F amelogenesis imperfecta, type IF
Location	4q13.3      Physical location : 71.458.000 - 71.473.002
Synonym name	ameloblastin
Synonym symbol(s)	AI1F

DNA

TYPE	functioning gene
STRUCTURE	15.10 kb     13 Exon(s)    1 Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016519 13 - 1999 NP_057603 - 447 - 2017 28395292

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         Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Digestive ameloblast Skeleton osteoblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	enamel sheath protein, 26 AA signal peptide
	heparin binding domains, critical for AMBN binding to dental epithelial cells

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Anbn

Homologene

FAMILY

ameloblastin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	secreted in the extracellular matrix
	located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel

basic FUNCTION	playing an important role in enamel matrix formation and mineralization
	promotes cell binding through the heparin binding sites and plays an important role in preventing odontogenic tumor development by suppressing cell proliferation and maintaining differentiation phenotypethrough Msx2, p21 and p27
	most abundant nonamelogenin enamel matrix protein, playing a role in ameloblast differentiation
	functions as a promoting factor for osteogenic differentiation via a novel pathway through the interaction between CD63 and ITGB1
	increases osteoclast number and differentiation as well as mineralized tissue resorption by regulating cell adhesion and actin cytoskeleton polymerization, initiating integrin-dependent extracellular matrix signaling cascades and enhancing osteoclastogenesis
	plays a crucial role in the regulation of cranial bone growth and suture closure via MSX2 suppression and proliferation inhibition
	AMBN facilitates likely rapid long bone growth and an important growth spurt during the skeletogenesis of adolescent tooth-bearing vertebrates
	is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia
	TFIP11, AMBN, and AMELX play an important role in dental caries

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

ossification

text	bone mineralization
	odontogenesis of dentine-containing tooth

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	bipolar calcium-binding protein (Vymetal 2008)
	phosphorylation modulates ameloblastin self-assembly and Ca 2+ binding

protein	may interact with AMELX to form a heteromolecular assembly
	bound to CD63 and promoted CD63 binding to integrin beta1
	AMTN interacts with itself and with ODAM, but not with amelogenin (AMELX), ameloblastin (AMBN), or enamelin (ENAM)
	ameloblasts responsible for enamel formation express MMP20, an enzyme that cleaves enamel matrix proteins, including amelogenin (AMELX) and ameloblastin (AMBN)
	binding properties of AMBN to Ca2+ may explain the role of AMBN in biomineralization and more generally in Ca2+ homeostasis processes

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)

AI1F

Susceptibility

to dental caries to Molar-Incisor Hypomineralization

Variant & Polymorphism other	rs7439186 in AMBN is involved in gene-by-fluoride interactions, in dental caries
	rs34367704 associated with Molar-Incisor Hypomineralization

Candidate gene	candidate gene for dentinogenesis imperfecta and/or autosomal dominant amylogenesis imperfecta (AIH2)
	defects in patients with ameloblastomas
	gene alterations may be relevant tot he pathogenesis of calcifying epithelial odontogenic tumor
Marker
Therapy target

ANIMAL & CELL MODELS