LP208433-5
MLC1 gene
Active
Description
The MLC1 gene (megalencephalic leukoencephalopathy with subcortical cysts 1) [HGNC Gene ID:17082] is located on chromosome 22q13.33. The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] [NCBI Gene ID:23209] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MLC1 gene
- Part Display Name
- MLC1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- MLC1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MLC1 基因 Synonyms: 巨脑性白质脑病伴皮质下囊肿 1; |
| es-ES | Spanish (Spain) | Gen MLC1 |
| it-IT | Italian (Italy) | Gene MLC1 |
| nl-NL | Dutch (Netherlands) | MLC1-gen Synonyms: MLC1 gen |
| fr-FR | French (France) | MLC1 gène |
| pl-PL | Polish (Poland) | MLC1 gen Synonyms: Gen MLC1 |
| el-GR | Greek (Greece) | Γονίδιο MLC1 Synonyms: Γονίδιο MLC1 |
LOINC Copyright
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