SLIT and NTRK-like protein 6
Function
Regulator of neurite outgrowth required for normal hearing and vision.
Involvement in disease
Deafness and myopia
DFNMYP
An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SLITRK family.
Tissue Specificity
In adult brain, highly expressed in putamen with no expression in cerebral cortex. Expressed in adult and fetal lung and fetal liver. Also expressed at high levels in some brain tumors including medulloblastomas and primitive neuroectodermal tumors.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
SLIT and NTRK-like protein 6, SLITRK6