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FLASH GENE

Symbol

AMBN

contributors: mct/pgu - updated : 11-12-2009

HGNC name	ameloblastin (enamel matrix protein)
HGNC id	452

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AIH2 amelogenesis imperfecta 2, hypoplastic local
Location	4q13.3      Physical location : 71.458.000 - 71.473.002
Synonym name	ameloblastin

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 - -

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
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

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

ossification

text	bone mineralization
	odontogenesis of dentine-containing tooth

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule
	bipolar calcium-binding protein (Vymetal 2008)

protein	may interact with AMELX to form a heteromolecular assembly
	bound to CD63 and promoted CD63 binding to integrin beta1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AIH2

Susceptibility

Variant & Polymorphism

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