FOXI1

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Forkhead box I1
Identifiers
Symbols FOXI1 ; FKH10; FKHL10; FREAC-6; FREAC6; HFH-3; HFH3
External IDs OMIM601093 HomoloGene8140 GeneCards: FOXI1 Gene
Orthologs
Species Human Mouse
Entrez 2299 14233
Ensembl ENSG00000168269 ENSMUSG00000047861
UniProt Q12951 Q922I5
RefSeq (mRNA) NM_012188 NM_023907
RefSeq (protein) NP_036320 NP_076396
Location (UCSC) Chr 5:
169.53 – 169.54 Mb
Chr 11:
34.2 – 34.21 Mb
PubMed search [1] [2]

Forkhead box I1 is a protein that in humans is encoded by the FOXI1 gene.[1]

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. wo transcript variants encoding different isoforms have been found for this gene.[1]

Clinical significance[edit]

Mutations in this gene are associated with enlarged vestibular aqueduct.[2]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: Forkhead box I1". Retrieved 2011-12-24. 
  2. ^ Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ (June 2007). "Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)". Am. J. Hum. Genet. 80 (6): 1055–63. doi:10.1086/518314. PMC 1867094. PMID 17503324. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.