75396-2
AIP gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
Active
Part Descriptions
LP185368-0 AIP gene
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
LP185368-0 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
LOINC Names Get Info
- Fully-Specified Name
- AIP gene mutation analysis limited to known familial mutations:
Find: Pt: Bld/Tiss: Doc: Molgen - Long Common Name
- AIP gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
- Short Name
- AIP Fam Mut Anl Bld/T
- Display Name
- AIP gene familial mut analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- AIP gene familial variant analysis, Blood or tissue specimen
Part Model Get Info
- Component
- AIP gene mutation analysis limited to known familial mutations
LP227568-5
- Analyte
- AIP gene mutation analysis limited to known familial mutations
LP227568-5
- Component Numerator
- AIP gene mutation analysis limited to known familial mutations
LP227568-5
- Component Numerator Core
- AIP gene
LP185368-0
- Component Numerator Core Suffix
- mutation analysis limited to known familial mutations
LP135775-7
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- Find
LP6813-2
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Bld/Tiss
LP7061-7
- System Core
- Bld/Tiss
LP7061-7
- Super System
- NULL
- Scale
- Doc
LP32888-7
- Method
- Molgen
LP6404-0
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.66 (MAJ)
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Gen AIP mutační analýza omezená na známé familiární mutace: |
| el-GR | Greek (Greece) | Γονίδιο AIP ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις: Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός ανάλυση μετάλλαξης περιοριζόμενη σε γνωστές οικογενείς μεταλλάξεις Γονίδιο Γονίδιο AIP Εύρεση Ιστός Μεταλλάξεις Μοριακή γενετική |
| es-ES | Spanish (Spain) | Gen AIP Análisis de mutaciones limitado al conocimiento de las mutaciones familiares: |
| es-MX | Spanish (Mexico) | Análisis de mutación del gen AIP limitado a mutaciones familiares conocidas: |
| fr-FR | French (France) | AIP gène mutation recherche limitée aux mutations familiales connues: |
| it-IT | Italian (Italy) | AIP, gene, analisi di mutazione limitata a mutazioni familiari note: Synonyms: Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | AIP-gen mutatieanalyse gelimiteerd tot bekende familiaire mutaties: Synonyms: AIP gen molgen |
| pl-PL | Polish (Poland) | AIP gen analiza mutacji ograniczona do znanych rodzinnie występujących mutacji: Synonyms: diagnostyka molekularna Gen AIP |
| tr-TR | Turkish (Turkey) | AIP geni mutasyon analizi, bilinen ailesel mutasyonlarla sınırlandırılmış: |
| zh-CN | Chinese (China) | AIP 基因 局限于已知家族性突变的突变分析: Synonyms: Aryl hydrocarbon receptor-interacting protein (AIP) gene; |
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