SLC24A4 gene

From NCBI Gene:

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

From UniProt:

Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived. May play a role in calcium transport during amelogenesis.

Covered on Genetics Home Reference:

• amelogenesis imperfecta

From NCBI Gene:

• Amelogenesis imperfecta, hypomaturation type IIA5
• Skin/hair/eye pigmentation, variation in, 6

From UniProt:

Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5): A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. [MIM:615887]

Cytogenetic Location: 14q32.12, which is the long (q) arm of chromosome 14 at position 32.12

Molecular Location: base pairs 92,322,581 to 92,501,481 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• AI2A5
• NCKX4
• SHEP6
• SLC24A2