LP185368-0
AIP gene
Active
Descriptions
Mutations in the AIP gene cause 15 to 25 percent of cases of familial isolated pituitary adenoma (FIPA), an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). Many kinds of mutations in the AIP gene have been identified, some of which lead to an abnormally short protein or no protein at all. Other mutations change single protein building blocks (amino acids) in AIP. Mutations in the AIP gene are found in a small percentage of individuals with sporadic macroadenomas, which are large (macro-) pituitary adenomas that occur in individuals with no history of the condition in their family. Source: Genetic Home Reference, National Library of Medicine , AIP gene
The AIP gene (aryl hydrocarbon receptor interacting protein) [HGNC Gene ID:358] is located on chromosome 11q13.3. The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] [NCBI Gene ID:9049] 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 Name
- AIP gene
- Part Display Name
- AIP gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-10
- Construct for LOINC Short Name
- AIP
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- CodeSystem lookup
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen AIP |
zh-CN | Chinese (China) | AIP 基因 Synonyms: Aryl hydrocarbon receptor-interacting protein (AIP) gene; |
it-IT | Italian (Italy) | AIP, gene |
tr-TR | Turkish (Turkey) | AIP geni |
nl-NL | Dutch (Netherlands) | AIP-gen Synonyms: AIP gen |
el-GR | Greek (Greece) | Γονίδιο AIP Synonyms: Γονίδιο AIP |
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