C4orf26 gene

chromosome 4 open reading frame 26

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]

From UniProt:

Might promote nucleation of hydroxyapatite.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amelogenesis imperfecta, hypomaturation type IIA4

From UniProt:

Amelogenesis imperfecta, hypomaturation type, 2A4 (AI2A4): 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:614832]

Cytogenetic Location: 4q21.1, which is the long (q) arm of chromosome 4 at position 21.1

Molecular Location: base pairs 75,554,997 to 75,565,893 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q21.1, which is the long (q) arm of chromosome 4 at position 21.1