Gene Symbol | NUP205 |
Entrez Gene ID | 23165 |
Full Name | nucleoporin 205 |
Synonyms | C7orf14,NPHS13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | ?Nephrotic syndrome, type 13, 616893 (3) |