RNF135 Chromosome 17
Ring finger protein 135
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000181481
Associated Conditions (4)
Macrocephaly
macrosomia
facial dysmorphism syndrome
Autism spectrum disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS559143316 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS724159978 | Health Risk | Pathogenic | Macrocephaly, macrosomia, facial dysmorphism syndrome |