Forkhead Box I1

Alternative Names

  • FOXI1
  • Forkhead, Drosophila, Homolog-Like 10
  • FKHL10
  • FKH10
  • Forkhead-Related Activator 6
  • FREAC6
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OMIM Number

601093

NCBI Gene ID

2299

Uniprot ID

Q12951

Length

3,841 bases

No. of Exons

4

No. of isoforms

2

Protein Name

Forkhead box protein I1

Molecular Mass

40973 Da

Amino Acid Count

378

Genomic Location

chr5:170,105,896-170,109,736

Gene Map Locus
5q35.1

Description

This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_012188.4:c.436C>TUnited Arab EmiratesNC_000005.10:g.170106393C>TLikely PathogenicRenal Tubular Acidosis, Distal, with Progressive Nerve DeafnessNG_012068.1:g.5481C>T; NM_012188.4:c.436C>T; NP_036320.2:p.Leu146Phe1365343626
NM_012188.4:c.638G>CIraqNC_000005.10:g.170108112G>CLikely PathogenicRenal Tubular Acidosis, Distal, with Progressive Nerve DeafnessNG_012068.1:g.7200G>C; NM_012188.4:c.638G>C; NP_036320.2:p.Arg213Pro377532550
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