Gene Symbol | SERPINB7 |
Entrez Gene ID | 8710 |
Full Name | serpin family B member 7 |
Synonyms | MEGSIN,PPKN,TP55 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | Palmoplantar keratoderma, Nagashima type, 615598 (3) |