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Gene Symbol |
MTRF1L |
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Aliases |
HMRF1L, MRF1L, mtRF1a |
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Entrez Gene ID |
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Gene Name |
Mitochondrial translational release factor 1 like |
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Chromosomal Location |
6q25.2 |
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HGNC ID |
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Summary |
The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
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e!Ensembl
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| Protein Information |
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Protein Name |
Peptide chain release factor 1-like, mitochondrial, mitochondrial release factor 1 like |
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Function |
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Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG. |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000262746 |
Q06830 |
Q06830 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Nervous System Diseases |
| Leber optic atrophy |
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References |
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| Kenigsberg Shlomit, Bentov Yaakov, Chalifa-Caspi Vered, Potashnik Gad, Ofir Rivka, Birk Ohad S |
| The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben-Gurion University, Beer-Sheva, Israel. |
| Mol Hum Reprod. 2009 Feb;15(2):89-103. doi: 10.1093/molehr/gan082. Epub 2009 Jan |
Abstract
The aim of this work was to study gene expression patterns of cultured cumulus cells from lean and overweight-obese polycystic ovary syndrome (PCOS) patients using genome-wide oligonucleotide microarray. The study included 25 patients undergoing in vitro fertilization and intra-cytoplasmic sperm injection: 12 diagnosed with PCOS and 13 matching controls. Each of the groups was subdivided into lean (body mass index (BMI) < 24) and overweight (BMI > 27) subgroups. The following comparisons of gene expression data were made: lean PCOS versus lean controls, lean PCOS versus overweight PCOS, all PCOS versus all controls, overweight PCOS versus overweight controls, overweight controls versus lean controls and all overweight versus all lean. The largest number of differentially expressed genes (DEGs), with fold change (FC) |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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