Version 2.78

Description

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

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
KIT gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2009-03-19
Construct for LOINC Short Name
KIT gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP94238-0
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP94238-0

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) KIT 基因
Synonyms: C-Kit;CD117;PBT;SCFR;mast/stem cell growth factor receptor;proto-oncogene tyrosine-protein kinase Kit;soluble KIT variant 1;v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog;肥大细胞/干细胞生长因子受体;干细胞/肥大细胞生长因子受体;原癌基因酪氨酸激酶 Kit;可溶性 KIT 变异体 1;可溶性 KIT 变体
et-EE Estonian (Estonia) KIT geen
es-ES Spanish (Spain) Gen KIT
it-IT Italian (Italy) KIT, gene
Synonyms: Gene KIT
tr-TR Turkish (Turkey) KIT geni
ru-RU Russian (Russian Federation) KIT ген
nl-NL Dutch (Netherlands) KIT-gen
Synonyms: KIT gen