SYNJ2
Description
The SYNJ2 (synaptojanin 2) is a protein-coding gene located on chromosome 6.
Synaptojanin 2 is a protein encoded by the SYNJ2 gene in humans. It belongs to the inositol-polyphosphate 5-phosphatase family. Synaptojanin 2 interacts with the ras-related C3 botulinum toxin substrate 1, leading to its translocation to the plasma membrane, where it inhibits clathrin-mediated endocytosis. Alternative splicing generates multiple transcript variants.
Synaptojanin-2 plays a role in membrane trafficking and signal transduction pathways. It may also mediate the inhibitory effect of Rac1 on endocytosis.
SYNJ2 is also known as INPP5H.
Associated Diseases
- hearing loss, autosomal recessive
- autosomal dominant nonsyndromic hearing loss 17
- deafness, aminoglycoside-induced
- autosomal dominant nonsyndromic hearing loss 7
- autosomal recessive nonsyndromic hearing loss 1B
- autosomal dominant nonsyndromic hearing loss
- hearing loss, sensorineural, autosomal-mitochondrial type
- cancer
