LP30748-5
FANCC gene
Active
Descriptions
FANCC gene determines the risk of developing Fanconi anemia-C disease. Specifically, the IVS4+4 A to T mutation is the only Fanconi anemia complementation group C mutation reported in the Ashkenazi Jewish population. Source: Regenstrief Institute
The FANCC gene (Fanconi anemia, complementation group C) [HGNC Gene ID:3584] is located on chromosome 9q22.3. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2176] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- FANCC gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2002-10-07
- Construct for LOINC Short Name
- FANCC gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FACC 基因 Synonyms: FAC; |
| et-EE | Estonian (Estonia) | FANCC geen |
| es-ES | Spanish (Spain) | Gen FANCC |
| it-IT | Italian (Italy) | FANCC, gene Synonyms: Gene FANCC |
| tr-TR | Turkish (Turkey) | FANCC geni |
| ru-RU | Russian (Russian Federation) | FANCC ген |
| nl-NL | Dutch (Netherlands) | FANCC-gen Synonyms: FANCC gen |
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