Gene: RNF135

Alternate names for this Gene: L13|MMFD|REUL|Riplet

Gene Summary: The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: ring finger protein 135

Type of Gene: protein-coding

rs724159978 in RNF135 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.