LP34986-7
FAH gene
Active
Description
The FAH gene (Fanconi anemia, complementation group A) [HGNC Gene ID:3579] is located on chromosome 16q24.3. 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2175] 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
- FAH gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-01-06
- Construct for LOINC Short Name
- FAH gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FAH 基因 Synonyms: I 型酪氨酸血症; |
| et-EE | Estonian (Estonia) | FAH geen |
| es-ES | Spanish (Spain) | Gen FAH |
| it-IT | Italian (Italy) | FAH, gene Synonyms: Gene FAH |
| tr-TR | Turkish (Turkey) | FAH geni |
| ru-RU | Russian (Russian Federation) | FAH ген |
| nl-NL | Dutch (Netherlands) | FAH-gen Synonyms: FAH gen |
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