Gene Symbol | FANCB |
Entrez Gene ID | 2187 |
Full Name | Fanconi anemia complementation group B |
Synonyms | FA2,FAAP90,FAAP95,FAB,FACB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]. |
Disorder MIM: | |
Disorder Html: | Fanconi anemia, complementation group B, 300514 (3) |