Gene: [0Yp112/AMELY] amelogenin, Y-linked; [AMGY AMGL ]
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). |
MUT | The AMELY allele carries a small deletion in the first intron, facilitating the design of distinct AMELX- and AMELY-specific polymerase chain reactions. established a sensitive and reliable method for sex identification in archaeological human remains (Faerman-1995)." |
FAG | The AMELY gene on the Y chromosome corresponds to the AMELX gene on the X chromosome (GEM:0Xp22/AMELX). These are not pseudoautosomal genes since females heterozygous for mutations in the AMGX gene causing amelogenesis imperfecta show lyonization, i.e., a mosaic pattern of enamel abnormality (Salido-1992)." |
REF | LOC,FAG,EAG "Bailey DMD &: Genomics, 14, 203-205, 1992 PRO,MUT,POL "Faerman M &: Gene, 167, 327-332, 1995 FAG,EAG "Lau EC &: Genomics, 4, 162-168, 1989 CLO,LOC,EAG "Nakahori Y &: Genomics, 9, 264-269, 1991 EXP "Salido EC &: AJHG, 50, 303-316, 1992 PRO,EVO,MOU "Snead ML &: Connect Tissue Res, 22, 101-109, 1989 |
SWI | SWISSPROT: Q99218 |
KEY | dent, exce |
CLA | coding, basic |
LOC | 0Y p11.2 |
MIM | MIM: 410000 |
SYN | AMGY AMGL |
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