LP188501-3
MRPL40 gene
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Descriptions
The mitochondrial ribosomal protein L40 (MRPL40) gene is located on the long arm (q) of chromosome 22 at position 11.2.[HGNC Gene ID:14491] Mitochondrial ribosomes have a small 28S subunit and large 39S subunit. The MRPL40 encodes a component of the 39S subunit protein. Deletions in this gene are thought to contribute to velo-cardio-facial syndrome and DiGeorge syndrome.[NCBI Gene ID: 605089] Source: Regenstrief LOINC
The MRPL40 gene (mitochondrial ribosomal protein L40) [HGNC Gene ID:14491] is located on chromosome 22q11.2. Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:64976] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- MRPL40 gene
- Part Display Name
- MRPL40 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- MRPL40
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MRPL40 基因 Synonyms: 线粒体核糖体蛋白 L40; |
| es-ES | Spanish (Spain) | Gen MRPL40 |
| it-IT | Italian (Italy) | MRPL40, gene Synonyms: Gene MRPL40 |
| tr-TR | Turkish (Turkey) | MRPL40 geni |
| nl-NL | Dutch (Netherlands) | MRPL40-gen Synonyms: MRPL40 gen |
| fr-FR | French (France) | MRPL40 gène |
| pl-PL | Polish (Poland) | MRPL40 gen Synonyms: Gen MRPL40 |
| el-GR | Greek (Greece) | Γονίδιο MRPL40 Synonyms: Γονίδιο MRPL40 |
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://