Bioinformatics Database
SLC24A4: Solute carrier family 24 member 4
3D Protein Structure Viewer
Cellular Process
Enamel formation
Gene Name
SLC24A4: Solute carrier family 24 member 4
Gene ID
123041
Gene Sequence
General Description
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family.
Alternative titles; symbols
SODIUM/POTASSIUM/CALCIUM EXCHANGER 4; NCKX4
Chromosome
Chromosome 14
Cytogenetic location
14q32.12
Encoded Protein
Sodium/potassium/calcium exchanger 4 isoform 1 precursor
Function of the protein in oral and tooth development
Wang et al., (2014) performed immunohistochemical analyses of developing teeth of mice and found that Slc24a4 was expressed in maturation-stage ameloblasts at the incisal end of the mandibular incisor and cusp tip of the first molar. Slc24a4 was not expressed in secretory-stage ameloblasts (Wang et al., 2014).
Dental and Oral Diseases
Amelogenesis imperfecta, type IIA5
(OMIM ID: 609840)
Protein Sequence
>NP_705932.2 sodium/potassium/calcium exchanger 4 isoform 1 precursor [Homo sapiens]
MALRGTLRPLKVRRRREMLPQQVGFVCAVLALVCCASGLFGSLGHKTASASKRVLPDTWRNRKLMAPVNG
TQTAKNCTDPAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDDFFVPSLEKICERLHLSEDVA
GATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFNILCIIGVCGLFAGQVVRLTWWAVCRDSVYY
TISVIVLIVFIYDEQIVWWEGLVLIILYVFYILIMKYNVKMQAFFTVKQKSIANGNPVNSELEAGNDFYD
GSYDDPSVPLLGQVKEKPQYGKNPVVMVDEIMSSSPPKFTFPEAGLRIMITNKFGPRTRLRMASRIIINE
RQRLINSANGVSSKPLQNGRHENIENGNVPVENPEDPQQNQEQQPPPQPPPPEPEPVEADFLSPFSVPEA
RGDKVKWVFTWPLIFLLCVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGYTLGIPDVIMG
ITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGLQTMVVNYGSTVKINSRGLVY
SVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLCFSIMIEFNVFTFVNLPMCREDD
Mutations
ARG339TER; SER499CYS: Parry et al. (2013).
ALA146VAL: Wang et al. (2014) identified a homozygous 437C-T transition (g.124552C-A), resulting in an ala146-to-val (A146V) substitution.
Related Literature
Wang et al., (2014): https://doi.org/10.1177/0022034514527971
Parry et al., (2013): https://doi.org/10.1016/j.ajhg.2013.01.003
