Property Summary

NCBI Gene PubMed Count 14
Grant Count 251
R01 Count 181
Funding $35,122,596.91
PubMed Score 689.43
PubTator Score 34.21

Knowledge Summary

Patent

No data available

Synonym

Accession Q99218 Q6RWT1
Symbols AMGL
AMGY

Gene

Gene RIF (6)

PMID Text
23948316 demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci
23623014 252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events.
22669323 Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor.
18067069 Observational study of genotype prevalence. (HuGE Navigator)
17588179 The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened.
17189292 Multigene deletions encompassing AMELY on short arm of chromosome Y.

AA Sequence

MGTWILFACLVGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRIALVLTPLKWYQSMIRPPYSSYGYE      1 - 70
PMGGWLHHQIIPVVSQQHPLTHTLQSHHHIPVVPAQQPRVRQQALMPVPGQQSMTPTQHHQPNLPLPAQQ     71 - 140
PFQPQPVQPQPHQPMQPQPPVQPMQPLLPQPPLPPMFPLRPLPPILPDLHLEAWPATDKTKQEEVD        141 - 206
//

Text Mined References (14)

PMID Year Title
23948316 2013 Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
23623014 2013 Mutation rate at 17 Y-STR loci in "Father/Son" pairs from moroccan population.
22669323 2012 Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.
18067069 2007 [Types and frequencies of variants in Amelogenin gene in Chinese population].
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17588179 2007 Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations.
17189292 2007 Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12815422 2003 The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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