Bioinformatics Database
LAMB3: Laminin subunit beta 3
Cellular Process
Enamel formation
Gene Name
LAMB3: Laminin subunit beta 3
Gene ID
3914
Gene Sequence
General Description
The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5.
Alternative titles; symbols
Laminin B3, Laminin 5, Beta-3 subunit Lam5, Beta-3 subunit
Chromosome
Chromosome 1
Cytogenetic location
1q32.2
Encoded Protein
Laminin subunit beta-3 precursor
Function of the protein in oral and tooth development
Giovani et al. (2016) reported differential expression of laminin chains in periodontal ligament (PDL) of deciduous and permanent teeth, suggesting an involvement of laminin-dependent pathways in the control of physiological differences between them.
Dental and Oral Diseases
Amelogenesis Imperfecta, Type IA
(OMIM ID: 150310)
Protein Sequence
>NP_001017402.1 laminin subunit beta-3 precursor [Homo sapiens]
MRPFFLLCFALPGLLHAQQACSRGACYPPVGDLLVGRTRFLRASSTCGLTKPETYCTQYGEWQMKCCKCD
SRQPHNYYSHRVENVASSSGPMRWWQSQNDVNPVSLQLDLDRRFQLQEVMMEFQGPMPAGMLIERSSDFG
KTWRVYQYLAADCTSTFPRVRQGRPQSWQDVRCQSLPQRPNARLNGGKVQLNLMDLVSGIPATQSQKIQE
VGEITNLRVNFTRLAPVPQRGYHPPSAYYAVSQLRLQGSCFCHGHADRCAPKPGASAGPSTAVQVHDVCV
CQHNTAGPNCERCAPFYNNRPWRPAEGQDAHECQRCDCNGHSETCHFDPAVFAASQGAYGGVCDNCRDHT
EGKNCERCQLHYFRNRRPGASIQETCISCECDPDGAVPGAPCDPVTGQCVCKEHVQGERCDLCKPGFTGL
TYANPQGCHRCDCNILGSRRDMPCDEESGRCLCLPNVVGPKCDQCAPYHWKLASGQGCEPCACDPHNSLS
PQCNQFTGQCPCREGFGGLMCSAAAIRQCPDRTYGDVATGCRACDCDFRGTEGPGCDKASGRCLCRPGLT
GPRCDQCQRGYCNRYPVCVACHPCFQTYDADLREQALRFGRLRNATASLWSGPGLEDRGLASRILDAKSK
IEQIRAVLSSPAVTEQEVAQVASAILSLRRTLQGLQLDLPLEEETLSLPRDLESLDRSFNGLLTMYQRKR
EQFEKISSADPSGAFRMLSTAYEQSAQAAQQVSDSSRLLDQLRDSRREAERLVRQAGGGGGTGSPKLVAL
RLEMSSLPDLTPTFNKLCGNSRQMACTPISCPGELCPQDNGTACGSRCRGVLPRAGGAFLMAGQVAEQLR
GFNAQLQRTRQMIRAAEESASQIQSSAQRLETQVSASRSQMEEDVRRTRLLIQQVRDFLTDPDTDAATIQ
EVSEAVLALWLPTDSATVLQKMNEIQAIAARLPNVDLVLSQTKQDIARARRLQAEAEEARSRAHAVEGQV
EDVVGNLRQGTVALQEAQDTMQGTSRSLRLIQDRVAEVQQVLRPAEKLVTSMTKQLGDFWTRMEELRHQA
RQQGAEAVQAQQLAEGASEQALSAQEGFERIKQKYAELKDRLGQSSMLGEQGARIQSVKTEAEELFGETM
EMMDRMKDMELELLRGSQAIMLRSADLTGLEKRVEQIRDHINGRVLYYATCK
Mutations
Truncating mutations in the LAMB3 gene causes autosomal dominant hypoplastic amelogenesis imperfecta (Poulter et al, 2014; Kim et al, 2013).
8-BP DEL, NT3446:
Kim et al. (2013) identified a heterozygous 8-bp deletion (NM_000228.2, c.3446_3453delGACTGGAG) in the last exon of the LAMB3 gene, which was predicted to result in a frameshift and premature termination (Gly1149GlufsTer8).
SER1144TER :
Kim et al. (2013) identified a heterozygous 1-bp substitution in exon 23 of the LAMB3 gene (NM_000228.2, c.3431C-A), resulting in a ser114-to-ter (S1144X) substitution.
1-BP INS, 3392G:
Poulter et al. (2014) identified a heterozygous 1-bp insertion in the LAMB3 gene (NM_000228, c.3392_3393insG), resulting in a frameshift and premature termination (Glu1133GlyfsTer27).
Related Literature
Kim et al., (2013): https://doi.org/10.1177/0022034513502054
Poulter et al., (2014): https://doi.org/10.1038/ejhg.2013.76
Giovani et al.,(2016): https://doi.org/10.1371/journal.pone.0154957
