AMELX
entrez
265
canonical
uniprot
Q99217
canonical
ensembl
ENSG00000125363
resolver
ensp
ENSP00000335312
resolver
ensp
ENSP00000370088
resolver
ensp
ENSP00000370090
resolver
genesymbol
AMELX
resolver
genesymbol_syn
AMG
resolver
genesymbol_syn
AMGX
resolver
hgnc
HGNC:461
resolver
uniprot
Q96NW6
resolver
uniprot
Q9UCA7
resolver
uniprot_entry
AMELX_HUMAN
resolver
uniprot_sec
Q96NW6
resolver
uniprot_sec
Q9UCA7
resolver
amino_acid_sequence
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWPSTDKTKREEVD
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 1E (AI1E) [MIM:301200]: An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. {ECO:0000269|PubMed:10669095, ECO:0000269|PubMed:15111628, ECO:0000269|PubMed:7599636, ECO:0000269|PubMed:7782077, ECO:0000269|PubMed:9188994}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
uniprot
proteins
mass_dalton
21603
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by FAM20C in vitro. {ECO:0000269|PubMed:25789606}.
uniprot
proteins
protein_family
Amelogenin family
uniprot
proteins
pubmed
10669095
uniprot
proteins
pubmed
11922868
uniprot
proteins
pubmed
15111628
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1734713
uniprot
proteins
pubmed
2004775
uniprot
proteins
pubmed
2509010
uniprot
proteins
pubmed
25789606
uniprot
proteins
pubmed
7599636
uniprot
proteins
pubmed
7782077
uniprot
proteins
pubmed
8118759
uniprot
proteins
pubmed
8254123
uniprot
proteins
pubmed
9188994
uniprot
proteins
sequence_length
191
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305|PubMed:25789606}.
uniprot
proteins