FAM36A Blocking Peptide
- Known as:
- FAM36A Blocking Peptide
- Catalog number:
- 33r-4967
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- FAM36A Blocking Peptide
Related genes to: FAM36A Blocking Peptide
- Gene:
- COX20 NIH gene
- Name:
- cytochrome c oxidase assembly factor COX20
- Previous symbol:
- FAM36A
- Synonyms:
- FLJ43269
- Chromosome:
- 1q44
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-16
- Date modifiied:
- 2018-06-21
Related products to: FAM36A Blocking Peptide
Related articles to: FAM36A Blocking Peptide
- Medulloblastoma (MB) is a common central nervous system malignancy in children, and its relationship with lactate metabolism has become an important area of cancer research in recent years, especially in metabolic reprogramming. This study aimed to determine the effects of lactate metabolism-related genes in the biological mechanisms involved in MB. - Source: PubMed
Publication date: 2026/02/25
Wang CeZhang RongLi ShenglanKang ZhuangXia ShaohuaiLi Wenbin - Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction. Isolated inherited SAN are rare, and the causes are limited, including RFC1 expansions (CANVAS), POLG variants and variants in COX20 and RNF170. Spinocerebellar ataxia type 15 (SCA15), caused by deletions in the ITPR1 gene, is another potential genetic cause of SAN, as peripheral neuropathy is commonly associated with various spinocerebellar ataxias. - Source: PubMed
Haddad SaifPoh RoyHehir JasonPolke James MBlake JulianReilly Mary M - The mitochondrial cytochrome c oxidase (COX, complex IV), a multi-subunit protein complex, plays a crucial role in cellular respiration by reducing oxygen to water and simultaneously pumping protons to enable oxidative phosphorylation (OXPHOS). Thus, defects in its assembly can directly affect cellular energy homeostasis. COX20 is an essential chaperone for the core subunit COX2. In human cultured cells, TMEM177 was found to stabilize COX20 and maintain balanced COX2 levels. In mice, TMEM177 was also identified as an interactor of mitochondrial ribosomes. To understand the function of TMEM177 in vivo, we generated Tmem177 knockout mice. Here, we analyze how TMEM177 loss affects mitochondrial gene expression, as well as the activity and assembly of OXPHOS complexes. We found that a small proportion of the knockout mice died perinatally, while surviving knockout mice tended to gain less weight. TMEM177 depletion moderately reduced COX20 levels, but OXPHOS complexes were preserved. Moreover, Tmem177 and Surf1 double knockout mice were born asymptomatic. In conclusion, TMEM177 fine-tunes complex IV assembly by stabilizing COX20 in vivo. Our findings refine the current model of complex IV assembly in mammals. - Source: PubMed
Publication date: 2025/11/16
Busch Jakob DSchöndorf ThomasMilenkovic DusankaLi XinpingWibom RolfSilva-Rodrigues Joana FFilograna RobertaKoolmeister CamillaLarsson Nils-GöranRubalcava-Gracia Diana - The gene encodes a critical assembly factor for cytochrome C oxidase (complex IV), and biallelic loss-of-function variants in this gene cause mitochondrial complex IV deficiency, typically presenting in infancy or childhood with hypotonia, ataxia, neuropathy, or dystonia. This study describes an adult male patient with a broad clinical spectrum of central and peripheral nervous system involvement. Different medical genetic tests were performed for the patient, and only whole-genome trio sequencing identified pathogenic variants in the gene. A review of previously reported cases was conducted to compare clinical and imaging findings. Two compound heterozygous variants in were identified: a known missense variant (c.41A>G; p.Lys14Arg) disrupting splicing, and a novel start-loss variant (c.2T>C; p.Met1?). The patient exhibited progressive ataxia, pyramidal signs, and peripheral neuropathy, accompanied by cervical spinal cord atrophy on spinal cord MRI and lower leg muscle fat infiltration on muscle MRI, an imaging feature not previously emphasized in -related disease. A review of previously reported cases underscores broad clinical variability of the -associated disorder, which may contribute to a prolonged diagnostic odyssey. - Source: PubMed
Publication date: 2025/09/11
Kuchina AnnaBorovikov ArtemSidorova OlgaOrlova MariaRyzhkova OxanaZaigrin IgorMurtazina Aysylu - Hereditary sensory neuropathies (HSNs) are a group of genetically and clinically heterogeneous diseases. Our study aims to summarize the genetic and clinical features of HSNs in 10 Chinese families. - Source: PubMed
Xu KeLi ZhongzhengWang MengliLiu LeiZeng SenLi XiaoboCao WanqianHuang ShunxiangZhao HuadongYang YanXie YongzhiHu ZhengmaoTang BeishaZhang Ruxu