LP208613-2
GATA1 gene exon 2
Active
Description
The GATA1 (GATA binding protein 1) gene [HGNC Gene ID:4170] is located on chromosome Xp11.23. This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2623] Mutations in GATA1 exon 2 have been detected in virtually all cases of megakaryoblastic leukemia and transient myeloproliferative disorder, and mutations in this exon are also associated with X-linked anemia with or without neutropenia and/or platelet abnormalities. [OMIM: 305371] Source: National Center for Biotechnology Information (NCBI) Gene, OMIM: GATA1
Basic Part Properties
- Part Name
- GATA1 gene exon 2
- Part Display Name
- GATA1 gene exon 2
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-30
- Construct for LOINC Short Name
- GATA1 exon 2
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GATA1 基因外显子 2 Synonyms: GATA 结合蛋白 1; |
| es-ES | Spanish (Spain) | Exón 2 del gen GATA1 |
| it-IT | Italian (Italy) | GATA1, gene exon 2 |
| nl-NL | Dutch (Netherlands) | GATA1-gen exon 2 Synonyms: GATA1 gen exon 2 |
| fr-FR | French (France) | GATA1 gène exon 2 |
| pl-PL | Polish (Poland) | GATA1 gen ekson 2 Synonyms: Ekson 2 genu GATA1 |
| el-GR | Greek (Greece) | Γονίδιο GATA1 εξώνιο 2 Synonyms: Γονίδιο GATA1 εξώνιο 2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://