Bioinformatics Database
FAM20A: FAM20A golgi associated secretory pathway pseudokinase
Cellular Process
Tooth Eruption
Gene Name
FAM20A: FAM20A golgi associated secretory pathway pseudokinase
Gene ID
54757
Gene Sequence
General Description
This locus encodes a protein that is likely secreted and may function in hematopoiesis.
Alternative titles; symbols
FAM20A
Chromosome
Chromosome 17
Cytogenetic location
17q24.2
Encoded Protein
Pseudokinase FAM20A isoform a precursor
Function of the protein in oral and tooth development
O'Sullivan et al. (2011) investigated expression of FAM20 gene family with in situ hybridization and immunolocalization in the mouse incisor tooth. Fam20a transcripts showed expression within the secretory ameloblasts, stratum intermedium cells, and the underlying analog of the stratum intermedium. Authors also reported Fam20a mRNA expression within maturation stage ameloblasts, the associated papillary layer, connective tissue bed, suprabasal cells of the gingivae, odontoblasts, and dental pulp cells (O'Sullivan et al., 2011).
Dental and Oral Diseases
Amelogenesis imperfecta, type IG (enamel-renal syndrome)
(OMIM ID: 611062)
Protein Sequence
>NP_060035.2 pseudokinase FAM20A isoform a precursor [Homo sapiens]
MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHN
FSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMY
REQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACD
CTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPP
TVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLA
PRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKF
GDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVL
TEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS
Mutations
ARG136TER: O'Sullivan et al. (2011) identified a homozygous mutation in exon 2 of the FAM20A gene (g.64063478C-T), resulting in an arg136-to-ter (R136X) substitution.
IVS4AS, A-G, -2; ARG478TER : Wang et al. (2013).
1-BP DEL, 612C: 1-bp deletion in the FAM20A gene (c.612delC) was found in compound heterozygous state in 2 sisters with enamel-renal syndrome by Jaureguiberry et al. (2012).
2-BP DEL, 34CT; IVS5AS, A-G, -2; 5-BP DEL, NT1175; IVS2AS, A-G, -2; ARG276TER : Cho et al. (2012).
Related Literature
O'Sullivan et al., (2011): https://doi.org/10.1016/j.ajhg.2011.04.005
Jaureguiberry et al., (2012): https://doi.org/10.1159/000349989
Wang et al., (2014): https://doi.org/10.1177/0022034513512653
Cho et al., (2012): https://doi.org/10.1002/humu.21621
