FOXI1 gene

forkhead box I1

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

From NCBI Gene:

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules.

From NCBI Gene:

  • Enlarged vestibular aqueduct syndrome
  • Pendred's syndrome

Cytogenetic Location: 5q34, which is the long (q) arm of chromosome 5 at position 34

Molecular Location: base pairs 170,105,897 to 170,109,725 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q34, which is the long (q) arm of chromosome 5 at position 34
  • FKH10
  • FKHL10
  • FREAC-6
  • FREAC6
  • HFH-3
  • HFH3