Gene Symbol | RBCK1 |
Entrez Gene ID | 10616 |
Full Name | RANBP2-type and C3HC4-type zinc finger containing 1 |
Synonyms | C20orf18,HOIL-1,HOIL1,PBMEI,PGBM1,RBCK2,RNF54,UBCE7IP3,XAP3,XAP4,ZRANB4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) |