Bioinformatics Database
FAM83H: Family with sequence similarity 83 member H
Cellular Process
Enamel formation
Gene Name
FAM83H: Family with sequence similarity 83 member H
Gene ID
286077
Gene Sequence
General Description
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel.
Alternative titles; symbols
Chromosome
Chromosome 8
Cytogenetic location
8q24.3
Encoded Protein
Protein FAM83H
Function of the protein in oral and tooth development
Yang et al, (2018) compared the control, and the Fam83h mutated mice and reported altered expression and localization of Fam83 h, CK1α and β-catenin in mouse ameloblast cell line (LS8). Application of pyrvinium pamoate, an inhibitor of the Wnt/β-catenin signaling pathway, up-regulated expression of mineralization factors in LS8. The results indicated that the Fam83h mutation could inhibit the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway (Yang et al, 2018).
Dental and Oral Diseases
Amelogenesis imperfecta, type IIIA
(OMIM ID: 611927)
Protein Sequence
>NP_940890.4 protein FAM83H [Homo sapiens]
MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEELEHVSRHLRP
PQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEA
RRMIRSAQQVVAVVMDMFTDVDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRT
VAGPTYYCRTGKSFKGHVKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQ
SEPLVPSAAALARMDAYALAPYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHF
LSAFRREEPPRMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAV
ENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQWDPQLTPARPQGLFEKLRGGRAGFADPDDFT
LGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDP
APEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGLPAPMEAEAYEDDVLAPGGRAPAGDLLPSAF
RVPAAFPTKVPVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAA
AATEKVQLLHKEQTVSETLGPGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWR
EEVAAPGAVGGERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQS
HSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQKGSPTSAYPE
RRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPMEVLRKGSLRLRQLLSPKGERR
MEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANALYSSNLRDDTKAILEQISAH
GQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLL
RRMESMRKEKRVYSRFEVFCKKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK
Mutations
ARG325TER: Kim et al. (2008) identified heterozygosity for a 973C-T transition in exon 5 of the FAM83H gene, resulting in an arg325-to-ter (R325X) substitution.
GLN398TER: Kim et al. (2008) identified a de novo nonsense mutation in exon 5 of the FAM83H gene: a 1192C-T transition resulting in a gln398-to-ter (Q398X) substitution.
GLU415TER: Lee et al. (2008) identified a 1243G-T transversion in the FAM83H gene, resulting in a glu415-to-ter (E415X) substitution.
TYR297TER: Lee et al. (2008) identified an 891T-A transversion in the FAM83H gene, resulting in a tyr297-to-ter (Y297X) substitution.
TRP460TER: Lee et al. (2008) identified a 1380G-A transition in the FAM83H gene, resulting in a trp460-to-ter (W460X) substitution.
GLN677TER: Lee et al. (2008) identified a 2029C-T transition in the FAM83H gene, resulting in a gln677-to-ter (Q677X) substitution.
GLN470TER, SER287TER, GLU694TER, TRP460TER: Wright et al. (2009).
2-BP DEL, 1872CC: Wright et al. (2009) identified a 2-bp deletion (1872-1873delCC) in the FAM83H gene, resulting in a frameshift and a truncated protein (Leu625fsTer703).
2-BP DEL, 923TC: Wright et al. (2009) identified a 2-bp deletion (923_924delTC) in the FAM83H gene, resulting in a frameshift and a truncated protein (Leu308fsTer323).
GLN456TER: Hart et al. (2009) identified a 1366C-T transition in exon 5 of the FAM83H gene, resulting in a gln456-to-ter (Q456X) substitution.
Related Literature
Yang et al., (2018): https://doi.org/10.1016/j.bbrc.2018.04.216
Lee et al., (2008): https://doi.org/10.1002/humu.20789
Kim et al., (2008): https://doi.org/10.1016/j.ajhg.2007.09.020
Hart et al., (2009): https://doi.org/10.1111/j.1399-0004.2008.01112.x
Wright et al.,(2009): https://doi.org/10.1177/0022034509333822
