Gene Symbol | RNF135 |
Entrez Gene ID | 84282 |
Full Name | ring finger protein 135 |
Synonyms | L13,MMFD,REUL,Riplet |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3) |