RMND1 antibody
- Known as:
- RMND1 (anti-)
- Catalog number:
- orb101793
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- RMND1 antibody
Related genes to: RMND1 antibody
- Gene:
- RMND1 NIH gene
- Name:
- required for meiotic nuclear division 1 homolog
- Previous symbol:
- C6orf96
- Synonyms:
- bA351K16.3, FLJ20627, RMD1
- Chromosome:
- 6q25.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-22
- Date modifiied:
- 2015-07-22
Related products to: RMND1 antibody
Related articles to: RMND1 antibody
- Perrault syndrome is a genetically and clinically diverse autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in females. This comprehensive review synthesizes data from various studies to map the genetic architecture of Perrault syndrome, highlighting mutations in fifteen principal genes: HSD17B4, HARS2, CLPP, LARS2, TWNK, ERAL1, RMND1, DAP3, PRORP, MRPL50, MRPL49, MRPS7, PEX6, GGPS1, and TFAM. Each of these genes plays a critical role either in mitochondrial function or peroxisomal processes, central to cellular energy metabolism and biosynthesis pathways. The review not only documents the spectrum of mutations found within these genes but also correlates specific genetic alterations with the range of phenotypes observed in patients, emphasizing the syndrome's allelic, locus, and clinical heterogeneity. The cohort demonstrates a distribution of 56.1% homozygous and 43.9% compound heterozygous variants, reflecting diverse ancestral backgrounds and potential selective pressures against deleterious alleles. The findings underscore the necessity for advanced genetic screening techniques in accurate diagnosis and the potential for gene-specific therapies that may mitigate some of the clinical manifestations of this complex condition. - Source: PubMed
Publication date: 2026/06/12
Tlili AbdelazizKhudeir Joudi Feras - - Source: PubMed
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Publication date: 2025/11/27
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Publication date: 2025/06/10
Pervin Hasna HenaMim Rabeya AkterGanguly AthoiKazal Rezaul KarimGutgutia RohitEshaque Tamannyat BinteOmar Farjana BintaRahaman Md AtikurHasan Md NahidIslam AmirulNassir NasnaHossain Mohammad ShahnoorAkter HosnearaUddin Mohammed - Renal tubular dysgenesis (RTD) is a severe kidney disease characterized by poor development of proximal tubules and persistent fetal anuria leading to oligohydramnios. It can be acquired during fetal life or inherited as an autosomal recessive disease associated with bi-allelic pathogenic variants in one of the genes encoding the renin-angiotensin system (RAS) components, AGT, REN, ACE, or AGTR1. Few cases of RTD remain unsolved despite the lack of fetal cause and comprehensive screening of RAS genes. - Source: PubMed
Publication date: 2025/05/14
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