The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
Function:
May be involved in limb tendon and ligament development.
Subcellular Location:
Nucleus.
Tissue Specificity:
Specifically expressed in skeletal muscle.
DISEASE:
Defects in SIX1 are the cause of deafness autosomal dominant type 23 (DFNA23) [MIM:605192]. A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.
Defects in SIX1 are the cause of branchiootic syndrome type 3 (BOS3) [MIM:608389]. BOS3 is a syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies are as those seen in individuals with the branchiootorenal syndrome. However, renal anomalies are absent in branchiootic syndrome patients.
Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although expressivity can be extremely variable.
Similarity:
Belongs to the SIX/Sine oculis homeobox family.
Contains 1 homeobox DNA-binding domain.
SWISS:
Q15475
Gene ID:
6495
Database links:
Entrez Gene: 6495 Human
Entrez Gene: 20471 Mouse
Entrez Gene: 114634 Rat
Omim: 601205 Human
SwissProt: Q15475 Human
SwissProt: Q62231 Mouse
SwissProt: Q8BSP4 Mouse
Unigene: 54416 Human
Unigene: 713114 Human
Unigene: 4645 Mouse
Unigene: 23396 Rat
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