GENETIC ENCYCLOPEDIA
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gene: RBX1

id9978
symbolRBX1
organismHomo sapiens
full namering-box 1
summaryThis locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]
variant-disease

GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1 AND See cases

NC_000022.11:g.(?_40868979)_(41333213_?)dup AND Nephronophthisis-like nephropathy 1

GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3 AND See cases

GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3 AND See cases

GRCh37/hg19 22q13.1-13.2(chr22:40233644-41655673)x3 AND See cases

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