LP189730-7
KIT gene exon 11
Active
Descriptions
The KIT gene (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) [HGNC Gene ID:6342] is located on chromosome 4q12. This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3815] Source: National Center for Biotechnology Information (NCBI) Gene
The cause of most gastrointestinal stromal tumors (GISTs) results from activating mutations in the KIT gene (~85%), primarily those in exons 11 (~70%) and 9 (~10-15%). PMID: 14645423 Patients with exon 9 mutations have a longer progression free survival and overall survival compared to patients with KIT exon 11 mutations. PMID: 18955458 Patient responses to KIT inhibitors (e.g. imatinib) varies depending on the mutations found. Patients with exon 9 mutations are more likely to respond to second line sunitinib than those with other KIT mutations. PMID: 20124181 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- KIT gene exon 11
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-03-06
- Construct for LOINC Short Name
- KIT Exon 11
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KIT 基因外显子 11 |
| es-ES | Spanish (Spain) | Gen KIT, exon 11 |
| it-IT | Italian (Italy) | KIT, gene exon 11 |
| tr-TR | Turkish (Turkey) | KIT geni ekzon 11 |
| nl-NL | Dutch (Netherlands) | KIT-gen exon 11 Synonyms: KIT gen exon 11 |
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