Ask about this productRelated genes to: PLDN antibody
- Gene:
- BLOC1S6 NIH gene
- Name:
- biogenesis of lysosomal organelles complex 1 subunit 6
- Previous symbol:
- PA, PLDN
- Synonyms:
- HPS9
- Chromosome:
- 15q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-01-21
- Date modifiied:
- 2019-04-23
Related products to: PLDN antibody
Related articles to: PLDN antibody
- This study aimed to identify transcript isoforms of protein-coding genes with potential relevance to the malignant transformation of gut mucosa. - Source: PubMed
Publication date: 2025/11/24
Babic TamaraBanovic Djeri BojanaPavlovic DunjaDragicevic SandraDespotovic JovanaKaranovic JelenaNikolic Aleksandra - We conducted a transcriptomic analysis to examine cerebellar transcriptional changes in a mouse model of chronic intermittent alcohol exposure. - Source: PubMed
Publication date: 2025/09/09
Zheng YifanSun GuangtaoWei ShuangKong LingyiGuo JinPan WeiZhu XiaofengQi Xunzhong - Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in , , and genes (types HPS1, HPS6, and HPS9) were found. To determine the optimal therapy and recommendations for further follow up, it is necessary to consider the entire clinical spectrum and genetic polymorphism of the disease. An interdisciplinary approach, combined with the use of non-routine diagnostic techniques such as RNA analysis, is essential for achieving accurate diagnoses in certain complex cases. - Source: PubMed
Publication date: 2024/10/19
Bobreshova Anastasia MIonova Sofya AKadyshev Vitaly VSukhanova Natella VViakhireva Iuliia VFilatova Alexandra YuZhurkova Natalia VSparber Peter AMarakhonov Andrey VVasilyeva Tatyana AShchagina Olga AKutsev Sergey IZinchenko Rena A - Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and hair pigmentation variations, along with visual impairments. Variants in eleven genes encoding protein complexes essential for membrane trafficking and intracellular endosomal transport pathways underlie various recognized HPS subtypes. This study focuses on HPS-9, a subtype of Hermansky-Pudlak Syndrome caused by a variant in the BLOC1S6 gene, which is a subunit of the BLOC1 complex. In this study, a novel Copy Number Variation (CNV) in the aforementioned gene in an Iranian family is reported. The study aims to better understand the etiology of HPS-9 symptoms by identifying and confirming the variant and determining whether the gene is expressed despite the deletion. There have only been five reports of this syndrome in the literature thus far. Our novel CNV represents a significant contribution to understanding the genetic basis of HPS-9. - Source: PubMed
Publication date: 2024/08/27
Kahani Seyyed MohammadSaray Ali RabbizadehKahaei Mir SalarDehghani AliMohammadi PouriaGarshasbi Masoud - Skin color is highly variable in Africans, yet little is known about the underlying molecular mechanism. Here we applied massively parallel reporter assays to screen 1,157 candidate variants influencing skin pigmentation in Africans and identified 165 single-nucleotide polymorphisms showing differential regulatory activities between alleles. We combine Hi-C, genome editing and melanin assays to identify regulatory elements for MFSD12, HMG20B, OCA2, MITF, LEF1, TRPS1, BLOC1S6 and CYB561A3 that impact melanin levels in vitro and modulate human skin color. We found that independent mutations in an OCA2 enhancer contribute to the evolution of human skin color diversity and detect signals of local adaptation at enhancers of MITF, LEF1 and TRPS1, which may contribute to the light skin color of Khoesan-speaking populations from Southern Africa. Additionally, we identified CYB561A3 as a novel pigmentation regulator that impacts genes involved in oxidative phosphorylation and melanogenesis. These results provide insights into the mechanisms underlying human skin color diversity and adaptive evolution. - Source: PubMed
Publication date: 2024/01/10
Feng YuanqingXie NingInoue FumitakaFan ShaohuaSaskin JoshuaZhang ChaoZhang FangHansen Matthew E BNyambo ThomasMpoloka Sununguko WataMokone Gaonyadiwe GeorgeFokunang CharlesBelay GurjaNjamnshi Alfred KMarks Michael SOancea ElenaAhituv NadavTishkoff Sarah A