Ask about this productRelated genes to: Ghitm Blocking Peptide
- Gene:
- GHITM NIH gene
- Name:
- growth hormone inducible transmembrane protein
- Previous symbol:
- -
- Synonyms:
- HSPC282, PTD010, DERP2, My021, TMBIM5
- Chromosome:
- 10q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-12-10
- Date modifiied:
- 2014-11-19
Related products to: Ghitm Blocking Peptide
Related articles to: Ghitm Blocking Peptide
- Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age-related diseases and might contribute to the development of both sarcopenia and frailty. In this study, we investigated the contribution of multi-omics data to sarcopenia, frailty, lean mass index (LMI) and handgrip strength in an elderly Lithuanian population. A total of 204 participants (age 82.2 ± 7.6 years) were included, comprising 122 individuals diagnosed with sarcopenia and/or frailty and 82 healthy, community-dwelling older adults. The results showed that LMI was associated with various health and lifestyle factors. Two genetic variants, CLIC5 rs75652203 and GHITM rs17102732, were found to be significantly associated with handgrip strength at the genome-wide level. Additionally, 12 polymorphisms previously linked to sarcopenia were replicated in relationship to LMI: BOK rs76993203, VAMP5 rs1374370, TMEM18 rs12714414, SFMBT1 rs36033494, BANK1 rs13136118, TET2 rs2647239, FOXO3 rs9384679, L3MBTL3 rs13209574, ZFAT rs13267329, CEP57 rs35793328, PCGF2 rs1985352 and MC4R rs66922415. Furthermore, several genes, many of which are involved in immune system processes, were significantly enriched with differentially methylated sites associated with LMI. Shorter telomeres were also associated with both sarcopenia and frailty. Notably, a significant relationship was observed between telomere length and methylation levels in genes related to lifestyle traits and the risk of developing these conditions. These findings provide new insights into the biological mechanisms underlying sarcopenia and frailty, underscoring the important roles of genetic and epigenetic factors in their pathogenesis among older adults. - Source: PubMed
Publication date: 2025/09/27
Ginevičienė ValentinaPranckevičienė ErinijaUrnikytė AlinaJurkūnaitė LauraGutauskaitė KristijonaDadelienė RūtaKilaitė JustinaJamontaitė Ieva EglėMastavičiūtė AstaAhmetov Ildus IAlekna Vidmantas - Housekeeping genes (HKGs) are crucial for maintaining basic cellular functions and are consistently expressed across various tissues and cell types, making them essential for normalizing gene expression. Their application is crucial in both basic research and clinical settings, such as breast cancer, where they help in accurate gene expression measurement and tumor subtype classification such as the PAM50 system. However, HKGs are often used without thorough assessment of their variability across different conditions, which may affect the reliability of normalization. - Source: PubMed
Publication date: 2025/06/08
Hwang Kyung WonYun Jae WonShin Ye JiLee Hye JungKim Hong Sook - Leucine zipper EF-hand containing transmembrane protein-1 (LETM1) plays a critical role in mitochondrial function, with haploinsufficiency linked to Wolf-Hirschhorn syndrome. Here, we present the solution NMR structure of the calcium (Ca)-depleted LETM1 EF-hand domain, revealing a closed conformation facilitated by a distinct F-helix pivot rather than decreased interhelical angle. Further, we observe regiospecific unfolding in response to hot and cold denaturation and show H662 has a pKa in-line with physiological pH fluctuations. Finally, we demonstrate Ca-dependent transient interactions between the EF-hand and other LETM1 or GHITM protein domains. Collectively, our data reveal the apo-to-holo structural dynamics and mechanisms underlying the multi-modal sensing by the LETM1 EF-hand domain, highlighting its role as an adaptable regulatory element within the mitochondrial matrix. - Source: PubMed
Publication date: 2025/02/10
Lin Qi-TongColussi Danielle MStathopulos Peter B - Growth hormone inducible transmembrane protein (GHITM), one member of Bax inhibitory protein-like family, has been rarely studied, and the clinical importance and biological functions of GHITM in kidney renal clear cell carcinoma (KIRC) still remain unknown. In the present study, we found that GHITM was downregulated in KIRC. Aberrant GHITM downregulation related to clinicopathological feature and unfavourable prognosis of KIRC patients. GHITM overexpression inhibited KIRC cell proliferation, migration and invasion in vitro and in vivo. Mechanistically, GHITM overexpression could induce the downregulation of Notch1, which acts as an oncogene in KIRC. Overexpression of Notch1 effectively rescued the inhibitory effect induced by GHITM upregulation. More importantly, GHITM could regulate PD-L1 protein abundance and ectopic overexpression of GHITM enhanced the antitumour efficiency of PD-1 blockade in KIRC, which provided new insights into antitumour therapy. Furthermore, we also showed that YY1 could decrease GHITM level via binding to its promoter. Taken together, our study revealed that GHITM was a promising therapeutic target for KIRC, which could modulate malignant phenotype and sensitivity to PD-1 blockade of renal cancer cells via Notch signalling pathway. - Source: PubMed
Huang ShiyuLiu JiachenHu JunchengHou YanguangHu MinZhang BanghuaLuo HongboFu ShujieChen YujieLiu XiuhengChen ZhiyuanWang Lei - This study is to discover hormone pathways active in early cleaving human embryos. - Source: PubMed
Publication date: 2023/12/22
Harris Amy LeeDinopoulou VasilikiLoutradis DimitrisDrakakis PeterKiessling Ann A