LP99727-7
ALAS2 gene
Active
Description
The ALAS2 gene (5'-aminolevulinate synthase 2) [HGNC Gene ID:397] is located on chromosome Xp11.21. The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:212] 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
- ALAS2 gene
- Part Display Name
- ALAS2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-03-10
- Construct for LOINC Short Name
- ALAS2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ALAS2 基因 Synonyms: δ-氨基γ-酮戊酸合酶基因; |
| et-EE | Estonian (Estonia) | ALAS2 geen |
| es-ES | Spanish (Spain) | Gen ALAS2 |
| it-IT | Italian (Italy) | ALAS2, gene Synonyms: Gene ALAS2 |
| tr-TR | Turkish (Turkey) | ALAS2 geni |
| ru-RU | Russian (Russian Federation) | ALAS2 ген |
| nl-NL | Dutch (Netherlands) | ALAS2-gen Synonyms: ALAS2 gen |
| fr-FR | French (France) | ALAS2 gène |
| pl-PL | Polish (Poland) | ALAS2 gen Synonyms: Gen ALAS2 |
| el-GR | Greek (Greece) | Γονίδιο ALAS2 Synonyms: Γονίδιο ALAS2 |
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://