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The official name of this gene is “ring finger protein 135.”
RNF135 is the gene's official symbol. The RNF135 gene is also known by other names, listed below.
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]
Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.
Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD): An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. The disease is caused by mutations affecting the gene represented in this entry.
|614192 (http://omim.org/entry/614192)||MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME|
|611358 (http://omim.org/entry/611358)||RING FINGER PROTEIN 135|
Cytogenetic Location: 17q11.2
Molecular Location on chromosome 17: base pairs 30,958,921 to 30,999,911
The RNF135 gene is located on the long (q) arm of chromosome 17 at position 11.2.
More precisely, the RNF135 gene is located from base pair 30,958,921 to base pair 30,999,911 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about RNF135 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal dominant ; DNA ; domain ; gene ; isoforms ; ligase ; macrocephaly ; motif ; protein ; renal ; sensorineural ; sensorineural hearing loss ; syndrome ; transcript ; ubiquitin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.