Gene Symbol | KRT17 |
Entrez Gene ID | 3872 |
Full Name | keratin 17 |
Synonyms | 39.1,CK-17,K17,PC,PC2,PCHC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]. |
Disorder MIM: | |
Disorder Html: | Pachyonychia congenita 2, 167210 (3); Steatocystoma multiplex, 184500 (3) |