AMBN
entrez
258
canonical
uniprot
Q9NP70
canonical
ensembl
ENSG00000178522
resolver
ensp
ENSP00000313809
resolver
genesymbol
AMBN
resolver
hgnc
HGNC:452
resolver
uniprot
Q3B862
resolver
uniprot
Q546D7
resolver
uniprot
Q9H2X1
resolver
uniprot
Q9H4L1
resolver
uniprot_entry
AMBN_HUMAN
resolver
uniprot_entry
Q546D7_HUMAN
resolver
uniprot_sec
Q3B862
resolver
uniprot_sec
Q9H2X1
resolver
uniprot_sec
Q9H4L1
resolver
amino_acid_sequence
MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSLETMRQLGSLQRLNTLSQYSRYGFGKSFNSLWMHGLLPPHSSLPWMRPREHETQQYEYSLPVHPPPLPSQPSLKPQQPGLKPFLQSAAATTNQATALKEALQPPIHLGHLPLQEGELPLVQQQVAPSDKPPKPELPGVDFADPQGPSLPGMDFPDPQGPSLPGLDFADPQGSTIFQIARLISHGPMPQNKQSPLYPGMLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYGAMFPGFGGMRPGFEGMPHNPAMGGDFTLEFDSPVAATKGPENEEGGAQGSPMPEANPDNLENPAFLTELEPAPHAGLLALPKDDIPGLPRSPSGKMKGLPSVTPAAADPLMTPELADVYRTYDADMTTSVDFQEEATMDTTMAPNSLQTSMPGNKAQEPEMMHDAWHFQEP
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 1F (AI1F) [MIM:616270]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discolored, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition. {ECO:0000269|PubMed:24858907}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the mineralization and structural organization of enamel.
uniprot
proteins
mass_dalton
48283
uniprot
proteins
protein_family
Ameloblastin family
uniprot
proteins
pubmed
10946765
uniprot
proteins
pubmed
11054529
uniprot
proteins
pubmed
11330937
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24858907
uniprot
proteins
sequence_length
447
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
uniprot
proteins