2024年12月25日 · MT-TS1 (Mitochondrially Encoded TRNA-Ser (UCN) 1) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TS1 include Keratoderma, Palmoplantar, With Deafness and Rare Mitochondrial Non-Syndromic Sensorineural Deafness.

The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins.

MT-TS1 is a small 69 nucleotide RNA (human mitochondrial map position 7446-7514) that transfers the amino acid serine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.

在513个咨询家庭中共发现20个明确携带线粒体DNA致病变异家庭，首诊个体中有16例耳聋先证者和4例无症状咨询者，分别携带 MT-RNR1 、 MT-TS1 和 MT-TL1 三个基因的9种突变：m.1095T>C、m.1310C>T、m.1494C>T、m.1555A>G、m.3243A>G、m.7445A>G、m.7505T>C、m.7510T>C和m.7511T>C。

By screening for heteroplasmy by means of chemical cleavage of mismatch (CCM) and nucleotide sequencing in a family with MERRF (545000)/MELAS (540000) overlap syndrome, Nakamura et al. (1995) identified a heteroplasmic 7512T-C transition in the MTTS1 gene. The mutation disrupted a highly conserved basepair in the acceptor stem.

同义词:线粒体编码的tRNA-丝氨酸 (UCN) 1;mitochondrially encoded tRNA-Ser (UCN) 1;TRNS1;

2024年12月10日 · Clinical resource with information about MT-TS1, Mitochondrial non-syndromic sensorineural hearing loss, Aminoglycoside-induced deafness, MELAS syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2024年12月10日 · Title: Mitochondrial tRNA (Ser (UCN)) 7471delC may be a novel mutation associated with maternally transmitted hypertension. These results demonstrated that the m.7505A>G variant affected both structure and function of tRNA (Ser (UCN)) and consequently altered mitochondrial function.

中文名称：线粒体编码的 tRNA 丝氨酸 1 (UCN) 种属: Homo sapiens 同用名: MTTS1; TRNS1

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.