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 |
