Bioinformatics Database
LTBP3: Latent transforming growth factor beta binding protein 3
Cellular Process
Enamel formation
Gene Name
LTBP3: Latent transforming growth factor beta binding protein 3
Gene ID
4054
Gene Sequence
General Description
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix.
Alternative titles; symbols
LTBP2, FORMERLY
Chromosome
Chromosome 11
Cytogenetic location
11q13.1
Encoded Protein
Latent-transforming growth factor beta-binding protein 3 isoform 1 precursor
Function of the protein in oral and tooth development
Huckert et al. (2015) analyzed mouse embryos at embryonic day (E) 14.5, E16.5, and E18.5, and observed Ltpb3 expression using in situ hybridization. Results showed transcripts in cap-stage teeth of mice at E14.5 and in the epithelial and mesenchymal compartments of bell-stage teeth at E16.5, especially in the most differentiated areas, such as the molar cusp tips and the rostral part of the incisors (Huckert et al, 2015). At E18.5, Huckert et al. (2015) also seen labeling in differentiating ameloblasts and odontoblasts, with transcripts scattered at the apical secretory pole of ameloblasts.
Dental and Oral Diseases
Dental anomalies and short stature (OMIM ID: 602090)
Protein Sequence
>NP_001123616.1 latent-transforming growth factor beta-binding protein 3
isoform 1 precursor [Homo sapiens]
MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVI
CKRTCLKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFC
QVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPGEGPPAQHAAFLV
PLGPGQISAEVQAPPPVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCF
QDTLPKQPCGSNPLPGLTKQEDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNS
THCQDINECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADKPEEKSLCFRLVSPEHQCQHPLT
TRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKP
QQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYPELISRPSPPTMRWFLPDLPP
SRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCHCNPGYRSHPQHRYCVDVNECEAEPCGPGRG
ICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPV
CEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTC
AQGYAPAPDGRSCLDVDECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGD
CINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTPTQDQHGCEEV
EQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGKGYTQD
NNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGV
CENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRD
CQLPESPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQ
SESNSFWDTSPLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRE
LNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQRRR
Mutations
YR744TER: Noor et al. (2009) identified a homozygous 2322C-G transversion in the LTBP3 gene, resulting in a tyr744-to-ter (Y744X) substitution.
1-BP INS, 1858G: Dugan et al. (2015) identified homozygosity for a 1-bp insertion in exon 13 of the LTBP3 gene, causing a frameshift predicted to result in premature termination after 171 amino acids (Cys620TrpfsTer171).
14-BP DEL, NT2071: Huckert et al. (2015) identified homozygosity for a 14-bp deletion in exon 14 of the LTBP3 gene, causing a frameshift predicted to result in a prematurely terminated protein (Tyr691LeufsTer95).
GLN141TER; IVS8DS, G-T, +1; 1-BP DEL, 2216G; 1-BP DEL, 2356G: Huckert et al. (2015).
1-BP DEL, 132G; GLU750TER: Guo et al. (2018) identified compound heterozygosity for mutations in the LTBP3 gene: a 1-bp deletion (c.132delG), causing a frameshift predicted to result in a premature termination codon (Pro45ArgfsTer25), and a c.2248G-T transversion, resulting in a glu750-to-ter substitution.
Related Literature
Huckert et al., (2015): https://doi.org/10.1093/hmg/ddv053
Noor et al.,(2009): https://doi.org/10.1016/j.ajhg.2009.03.007
Guo et al.,(2018): https://doi.org/10.1016/j.ajhg.2018.03.002
Dugan et al., (2015): https://doi.org/10.1002/ajmg.a.37049
