Gene: [0Xp22/AMELX] amelogenin, X-linked; amelogenesis imperfecta I; [AIH1 ALGN ]

FUN

Amelogenins, a family of extracellular matrix proteins of the dental enamel, are transiently but abundantly expressed by ameloblasts during tooth development. Amelogenins seem to regulate the formation of crystallites during the secretory stage of enamel development, while they are specifically degraded during tooth-bud maturation (Salido-1992)."

GEN

The gene length: 3 kb; exons: 3 (Nakahori-1991).

MEB

Enamel crystallites form in a protein matrix located proximal to the ameloblast cell layer. This unique organic extracellular matrix is constructed from structural protein components biosynthesized and secreted by ameloblasts. To date, three distinct classes of enamel matrix proteins have been cloned. These are the amelogenins (GEM:0Xp22/AMELX; GEM:0Yp112/AMELY), tuftelin (GEM:01q/TUFT1), and ameloblastin (GEM:04q21/AMBN), with recent data implicating ameloblastin gene expression during cementogenesis. The organic enamel extracellular matrix undergoes assembly to provide a three-dimensional array of protein domains that carry out the physiologic function of guiding enamel hydroxyapatite crystallite formation (Paine-1998)."

PAT

Amelogenesis imperfecta is a disfiguring inherited condition affecting tooth enamel. X-Linked and autosomal dominant and recessive inheritance patterns occur."

HET

The genetic hetetogeneity in amelogenesis imperfecta was shown with one autosomal locus (GEM:04q1/AIH2) and two X-linked ones (GEM:0Xp22/AMELX; GEM:0Xq2/AIH3)."

REF

REV,PAT,HET "Aldred MJ, Crawford PJ: Ciba Found Symp, 205, 200-205, 1997
PAT,HET "Aldred MJ &: Genomics, 14, 567-573, 1992a
PAT,MUT "Aldred MJ &: Hum Genet, 90, 413-416, 1992b
LIN,MAP,EAG "Blair HJ &: Genomics, 48, N1, 128-131, 1998
COD,SEQ,PEP "Catalano-Sherman J &: J Dent Res, 72, 1566-1572, 1993
MUT,PAT,MOL "Lagerstrom M &: Genomics, 10, N4, 971-975, 1991
PAT,MUT "Lagerstrom-Fermer M &: Genomics, 26, 159-162, 1995
LOC,FAG,EAG "Lau EC &: Genomics, 4, 162-168, 1989
LOC,FAG "Lau EC &: J Cell Biol, 105, 241A, 1987
PAT,MUT "Lench NJ, Winter GB: Hum Mut, 5, 251-259, 1995
CLO,FAG,EAG "Nakahori Y &: Genomics, 9, 264-269, 1991
REV,MOP,MEB "Paine ML &: J Dent Res, 77, N3, 496-502, 1998
EXP "Salido EC &: AJHG, 50, 303-316, 1992

SWI

SWISSPROT: Q99217

KEY

devd, bone, dent

CLA

coding, basic

LOC

0X p22.31-22.1

MIM

MIM: 301200

SYN

AIH1 ALGN

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