2024年12月25日 · MT-TS2 (Mitochondrially Encoded TRNA-Ser (AGU/C) 2) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TS2 include Retinitis Pigmentosa-Deafness Syndrome and Usher Syndrome, Type Iiia.

MT-TS2 is a small 59 nucleotide RNA (human mitochondrial map position 12207-12265) that transfers the amino acid serine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.

2024年12月10日 · Mutations in the mitochondrial tRNA Ser (AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study.

2023年10月10日 · MTTS2 mutations are an important cause of retinal and syndromic auditory impairment. Title: Mutations in the mitochondrial tRNA Ser (AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. Observational study of gene-disease association. (HuGE Navigator)

2007年2月15日 · Lynn et al. (1998) described a family with extensive maternal transmission of cerebellar ataxia, cataracts, and diabetes, together with a mutation in the MTTS2 gene: 12258C-A. The index case was a 61-year-old woman who developed cataracts at 30 years of age, deafness at 39 years of age, and cerebellar ataxia at 57 years of age.

2004年10月22日 · The diagnosis of mitochondrial nonsyndromic hearing loss and deafness is established in a proband with hearing loss and identification of a pathogenic variant in MT-RNR1 or MT-TS1, or one of the eight additional mitochondrial genes known to cause nonsyndromic hearing loss and deafness.

This tRNA sequence is 59 nucleotides long and is found in Homo sapiens. Annotated by 5 databases (HGNC, Ensembl, MalaCards, GeneCards, ENA). Homo sapiens (human) mitochondrially encoded tRNA-Ser (AGU/C) 2 (MT-TS2) sequence is a product of tRNA-Ser 2, tRNA-Ser (AGY), trnS2, trnS1, trnS, tRNA-Ser, ENSG00000210184.1, TRNS2, …

2024年2月26日 · 串联重复，也称卫星DNA，指的是核心重复单位约1到200个碱基，在串联中重复多次。 正如表3所示，在S. glauca mt基因组中存在12个串联重复，匹配度大于95%，长度在13 bp到38 bp之间。 使用REPuter软件还检测到了S. glauca mt基因组中的非串联重复。

MT-TS2 has 409 functional associations with biological entities spanning 3 categories (disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue) extracted from 5 datasets.

Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline Collection method: clinical testing curation literature only research other Minimum conflict level: multiple submissions, potential for conflict synonymous conflict (e.g. benign vs non-pathogenic) confidence conflict (e.g. benign vs likely benign) benign or ...