CKMT antibody Polyclonal Antibodies Primary antibodies
- Known as:
- CKMT (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100542
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- CKMT antibody Polyclonal Antibodies Primary antibodies
Related genes to: CKMT antibody Polyclonal Antibodies Primary antibodies
- Gene:
- CKMT1A NIH gene
- Name:
- creatine kinase, mitochondrial 1A
- Previous symbol:
- CKMT1
- Synonyms:
- -
- Chromosome:
- 15q15.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-04-15
- Date modifiied:
- 2016-10-05
- Gene:
- CKMT1B NIH gene
- Name:
- creatine kinase, mitochondrial 1B
- Previous symbol:
- CKMT, CKMT1
- Synonyms:
- UMTCK
- Chromosome:
- 15q15.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-04-13
- Date modifiied:
- 2016-10-05
Related products to: CKMT antibody Polyclonal Antibodies Primary antibodies
Related articles to: CKMT antibody Polyclonal Antibodies Primary antibodies
- Hearing loss (HL) is the most common sensory disability worldwide, with GJB2-GJB6 connexin alterations (DFNB1) being the most frequent causes of non-syndromic hearing loss (NSHL). Recent studies have also highlighted the STRC gene as a significant contributor to NSHL, with its incidence potentially approaching that of connexin alterations. Despite advances in next-generation sequencing (NGS), molecular diagnosis remains challenging for many NSHL patients, often due to the complexity of analyzing the STRC gene. This is largely attributed to its location in a tandemly duplicated region and the presence of a homologous pseudogene (STRCP1), which complicates its accurate identification. The most common cause of DFNB16 is a homozygous large contiguous gene deletion at 15q15.3, but other copy number variants (CNVs), including both losses and gains, have been less well characterized. Through a combination of techniques we present new data on STRC variants and the diagnosis of 72 DFNB16 patients from 59 families. While the CKMT1B-STRC-CATSPER2 deletion is the most frequent alteration, the improvement of droplet-digital PCR (ddPCR) for refining CNV analysis in the first 16 exons of the gene (99,8% homologous with the pseudogene) has allowed us to identify and better define a higher incidence of previously unclarified complex rearrangements. Additionally, we have identified a direct cis association between the c.4837 G > T;p.(Glu1613*) pathogenic variant and the CATSPER2-CKMT1A-STRCP1 duplication. These findings underscore the important role of ddPCR in identifying CNVs that are difficult to detect through conventional NGS, significantly improving diagnosis and enabling precise genetic counseling for affected families. - Source: PubMed
Publication date: 2025/05/08
Alvaro SaraCastillo DanielGenovés JordiPrados Erik DLevorato MaurizioAlbertí AnnaDíaz ÁguedaCardelús SaraMartorell Loreto - Biallelic loss-of-function variants in STRC contribute to mild-moderate hearing loss (DFNB16). Here, we report a female patient with mild hearing loss. Exome sequencing and MLPA analysis revealed STRC biallelic inactivation due to a nonsense and a CKMT1B-STRC deletion. Analysis of the self-reported normal-hearing parents revealed inconsistent Mendelian inheritance. Indeed, the mother was a heterozygous carrier of a CKTM1B-STRC-CATSPER2 deletion, and the father shared the same genotype as his daughter. He was later found to also have mild-moderate hearing loss. To address these discrepancies, we used long-read sequencing and optical genome mapping. We demonstrated that the father, in fact, carried a CKMT1B-STRC-CATSPER2 deletion in trans with the STRC nonsense variant and a tandem duplication of CATSPER2-CKMT1A. The proband inherited this latter haplotype, together with the maternal CKMT1B-STRC-CATSPER2 deletion. Combining these two technologies allowed us to fully elucidate the complex structural rearrangements at the STRC locus and provide appropriate genetic counselling. - Source: PubMed
Publication date: 2024/12/05
Laurent SachaVannier AnneGehrig CorinneAbramowicz MarcPaoloni-Giacobino ArianeCao Van HélèneGuipponi Michel - Creatine kinases are essential for maintaining cellular energy balance by facilitating the reversible transfer of a phosphoryl group from ATP to creatine, however, their role in mitochondrial ATP production remains unknown. This study shows creatine kinases, including CKMT1A, CKMT1B, and CKB, are highly expressed in cells relying on the mitochondrial F1F0 ATP synthase for survival. Interestingly, silencing CKB, but not CKMT1A or CKMT1B, leads to a loss of sensitivity to the inhibition of F1F0 ATP synthase in these cells. Mechanistically, CKB promotes mitochondrial ATP but reduces glycolytic ATP production by suppressing mitochondrial calcium (mCa) levels, thereby preventing the activation of mitochondrial permeability transition pore (mPTP) and ensuring efficient mitochondrial ATP generation. Further, CKB achieves this regulation by suppressing mCa levels through the inhibition of AKT activity. Notably, the CKB-AKT signaling axis boosts mitochondrial ATP production in cancer cells growing in a mouse tumor model. Moreover, this study also uncovers a decline in CKB expression in peripheral blood mononuclear cells with aging, accompanied by an increase in AKT signaling in these cells. These findings thus shed light on a novel signaling pathway involving CKB that directly regulates mitochondrial ATP production, potentially playing a role in both pathological and physiological conditions. - Source: PubMed
Publication date: 2024/06/19
He LeLin JianghuaLu ShaojuanLi HaoChen JieWu XinyiYan QixinLiu HailiangLi HuiShi Yufeng - Syndromic hearing loss that results from contiguous gene deletions is uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene deletions at 15q15.3. - Source: PubMed
Publication date: 2006/11/10
Zhang YuzhouMalekpour MahdiAl-Madani NavidKahrizi KimiaZanganeh MarvamLohr Naomi JMohseni MarziehMojahedi FaezehDaneshi AhmadNajmabadi HosseinSmith Richard J H