Bioinformatics Database
ENAM: Enamelin
Cellular Process
Enamel formation
Gene Name
ENAM: Enamelin
Gene ID
10117
Gene Sequence
General Description
ENAM encodes the largest protein in the enamel matrix of developing teeth
Alternative titles; symbols
Chromosome
Chromosome 4
Cytogenetic location
4q13.3
Encoded Protein
Enamelin isoform 1 precursor
Function of the protein in oral and tooth development
Tooth enamel is the hardest substance found in vertebrates. ENAM gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel.
Dental and Oral Diseases
Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
(OMIM ID: 606585)
Protein Sequence
>NP_114095.2 enamelin isoform 1 precursor [Homo sapiens]
MLVLRCRLGTSFPKLDNLVPKGKMKILLVFLGLLGNSVAMPMHMPRMPGFSSKSEEMMRYNQFNFMNGPH
MAHLGPFFGNGLPQQFPQYQMPMWPQPPPNTWHPRKSSAPKRHNKTDQTQETQKPNQTQSKKPPQKRPLK
QPSHNQPQPEEEAQPPQAFPPFGNGLFPYQQPPWQIPQRLPPPGYGRPPISNEEGGNPYFGYFGYHGFGG
RPPYYSEEMFEQDFEKPKEEDPPKAESPGTEPTANSTVTETNSTQPNPKGSQGGNDTSPTGNSTPGLNTG
NNPPAQNGIGPLPAVNASGQGGPGSQIPWRPSQPNIRENHPYPNIRNFPSGRQWYFTGTVMGHRQNRPFY
RNQQVQRGPRWNFFAWERKQVARPGNPVYHKAYPPTSRGNYPNYAGNPANLRRKPQGPNKHPVGTTVAPL
GPKPGPVVRNEKIQNPKEKPLGPKEQIIVPTKNPTSPWRNSQQYEVNKSNYKLPHSEGYMPVPNFNSVDQ
HENSYYPRGDSRKVPNSDGQTQSQNLPKGIVLGSRRMPYESETNQSELKHSSYQPAVYPEEIPSPAKEHF
PAGRNTWDHQEISPPFKEDPGRQEEHLPHPSHGSRGSVFYPEYNPYDPRENSPYLRGNTWDERDDSPNTM
GQKESPLYPINTPDQKEIVPYNEEDPVDPTGDEVFPGQNRWGEELSFKGGPTVRHYEGEQYTSNQPKEYL
PYSLDNPSKPREDFYYSEFYPWSPDENFPSYNTASTMPPPIESRGYYVNNAAGPEESTLFPSRNSWDHRI
QAQGQRERRPYFNRNIWDQATHLQKAPARPPDQKGNQPYYSNTPAGLQKNPIWHEGENLNYGMQITRMNS
PEREHSSFPNFIPPSYPSGQKEAHLFHLSQRGSCCAGSSTGPKDNPLALQDYTPSYGLAPGENQDTSPLY
TDGSHTKQTRDIISPTSILPGQRNSSEKRESQNPFRDDVSTLRRNTPCSIKNQLGQKEIMPFPEASSLQS
KNTPCLKNDLGGDGNNILEQVFEDNQLNERTVDLTPEQLVIGTPDEGSNPEGIQSQVQENESERQQQRPS
NILHLPCFGSKLAKHHSSTTGTPSSDGRQSPFDGDSITPTENPNTLVELATEEQFKSINVDPLDADEHSP
FEFLQRGTNVQDQVQDCLLLQA
Mutations
Amelogenesis imperfecta, type IB (IVS7DS, G-A, +1):
Rajpar et al. (2001) identified a G-to-A transition in the splice donor site following exon 7 of the ENAM gene (c.841+1G-A). The mutation disrupted a HphI site, which permitted confirmation of cosegregation with the disease phenotype. Song et al. (2012) stated that they had identified the same heterozygous splicing mutation, which they designated c.534+1G-A, in the ENAM gene in affected members of a 3-generation Chinese family (family 6) with hypoplastic AI.
Amelogenesis imperfecta, type IB(LYS53TER):
Mardh et al. (2002) identified a heterozygous transverse mutation in exon 4 of the ENAM gene, resulting in a lys53-to-ter (K53X) substitution.
Amelogenesis imperfecta, type IC (2-BP INS, 13185AG):
Hart et al. (2003) identified a homozygous 2-bp insertion in exon 10 of the ENAM gene, resulting in a premature stop codon (Pro422fsTer448).
Related Literature
Rajpar et al., (2001): https://doi.org/10.1093/hmg/10.16.1673
Mårdh et al., (2002): https://doi.org/10.1093/hmg/11.9.1069
Song et al., (2012): https://doi.org/10.1159/000334210
Hart et al., (2003): https://doi.org/10.1136/jmg.40.12.900
