SPECC1L antibody
- Known as:
- SPECC1L (anti-)
- Catalog number:
- orb100633
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- SPECC1L antibody
Related genes to: SPECC1L antibody
- Gene:
- SPECC1L NIH gene
- Name:
- sperm antigen with calponin homology and coiled-coil domains 1 like
- Previous symbol:
- CYTSA
- Synonyms:
- KIAA0376
- Chromosome:
- 22q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2006-10-19
- Date modifiied:
- 2017-03-10
Related products to: SPECC1L antibody
Related articles to: SPECC1L antibody
- Asthma is a heterogeneous disease characterized by diverse immune and inflammatory phenotypes driven by complex interactions among multiple cell types. To investigate the temporal transcriptional programs associated with chronic allergen exposure and their relevance to human asthma, we performed a time-series transcriptomic analysis of lung tissue from a mouse model subjected to repeated intranasal exposure to Dermatophagoides pteronyssinus (Der.p), and integrated these findings with peripheral blood mononuclear cell (PBMC) transcriptomes from two independent asthma cohorts. Mice were subjected to repeated Der.p exposure, and lung transcriptomes were analyzed using RNA sequencing. Differentially expressed genes (DEGs) were identified and grouped into distinct temporal expression patterns using k-means clustering. Functional enrichment analysis of temporally consistent gene clusters showed sustained activation of immune and inflammatory pathways, with concurrent suppression of pathways related to tissue organization. Co-expression network analysis further identified Dipk2a and Specc1l as central nodes within gene modules associated with chronic inflammation. To evaluate whether genes identified in the mouse model are also associated with asthma, these genes were examined in PBMC transcriptomes from Der.p-sensitized asthma patients in the COREA and PRISM cohorts. Directionally consistent expression changes were observed for subsets of genes in both cohorts, with SIGLEC1 and TRIM54 identified in both datasets. Together, this study delineates time-dependent transcriptional programs associated with chronic allergen-induced airway inflammation and identifies immune-related genes linked to asthma. The identified genes, including SIGLEC1 and TRIM54, represent candidate markers associated with chronic inflammatory responses in asthma and warrant further investigation. - Source: PubMed
Publication date: 2026/04/10
Hong On-YuKim EunseChoi Eun-ADo Ji-HyeHong Se-HyangKim Seung HyunWon SunghoKim Tae-BumLee Hye-Ja - Teebi hypertelorism syndrome (THS) is a rare, autosomal dominant craniofacial malformation disorder, characterized by orbital hypertelorism and characteristic craniofacial features, including a prominent forehead, wide arched eyebrows, short broad nasal root and tip, a thin upper lip, and a small chin. In addition to the characteristic phenotypic traits, systemic malformations may involve the limbs, central nervous system, urogenital tract, uterus, umbilicus (omphalocele), or cardiac system. Most cases can now be attributed to pathogenic variants in the gene on chromosome 22q11.23, leading to what is known as SPECC1L-related hypertelorism syndrome, which is associated with disruption of a cytoskeletal cross-linking protein. This protein is crucial for normal craniofacial morphogenesis during neural crest cell migration and midline facial formation. To date, there are no previous reports of anesthetic care in a patient with THS. We present a 4-year-old child with THS who presented for anesthetic care during thoracic laminectomy and excision of an intradural mass. We explore the history and clinical presentation of the disorder, outline end-organ involvement, and discuss perioperative concerns. - Source: PubMed
Publication date: 2026/03/04
Abdelhady EslamTobias Joseph D - SPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in cause a syndrome characterized by craniofrontonasal anomalies including broad nasal bridge, ocular hypertelorism, prominent forehead, and cleft lip/palate. Complete loss of in mice on a homogeneous genetic background results in perinatal lethality, accompanied by subtle cranial differences and incompletely penetrant cleft palate. This lethality limits postnatal analysis of craniofacial development. Because cranial neural crest cells (CNCCs) contribute extensively to the formation of anterior craniofacial structures, we investigated whether disruption of SPECC1L in CNCCs contributes to the craniofrontonasal phenotypes observed in -related syndrome. We generated a -floxed allele and crossed it with the deleter strain, which drives Cre recombinase expression in the dorsal neuroectoderm and NCCs. Most homozygous mutants survived postnatally and exhibited hallmark features of the human -related syndrome, including shortened skulls, reduced frontal bone area, nasal defects, and midface hypoplasia. The cranial mesenchyme of mice displayed shortened primary cilia and increased Hedgehog (Hh) signaling activity at E13.5, as evidenced by enhanced GLI1 immunostaining. These defects were also observed early in E9.5 facial prominences, indicating that they may drive the adult phenotype. Collectively, mice provide a novel model for investigating the roles of CNCCs, primary cilia, and Hh signaling in frontonasal prominence and midfacial development. - Source: PubMed
Publication date: 2026/01/22
Tran An JHufft-Martinez Brittany MThalman Dana NMaili LorenaMcKinney Sean AGoering Jeremy PTrainor Paul ASaadi Irfan - SPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in cause a syndrome characterized by craniofrontonasal anomalies including broad nasal bridge, ocular hypertelorism, prominent forehead, and cleft lip/palate. Complete loss of in mice on a homogenous genetic background results in perinatal lethality, accompanied by subtle cranial differences and incompletely penetrant cleft palate. This lethality limits postnatal analysis of craniofacial development. Because cranial neural crest cells (CNCCs) contribute extensively to the formation of anterior craniofacial structures, we investigated whether disruption of SPECC1L in CNCCs contributes to the craniofrontonasal phenotypes observed in -related syndrome. We generated a -floxed allele and crossed it with the deleter strain, which drives Cre recombinase expression in the dorsal neuroectoderm and NCCs. Most homozygous mutant mutants survived postnatally and exhibited hallmark features of the human -related syndrome, including shortened skulls, reduced frontal bone area, nasal defects, and midface hypoplasia. The cranial mesenchyme of mice displayed shortened primary cilia and increased Hedgehog (Hh) signaling activity at E13.5, as evidenced by enhanced GLI1 immunostaining. These defects were also observed early in E9.5 facial prominences, indicating that they are etiologic in nature. Collectively, mice provide a novel model for investigating the roles of CNCCs, primary cilia, and Hh signaling in frontonasal prominence and midfacial development. - Source: PubMed
Publication date: 2025/11/23
Tran An JHufft-Martinez Brittany MThalman Dana NMaili LorenaMcKinney SeanGoering Jeremy PTrainor Paul ASaadi Irfan - Cilium formation and actin cytoskeleton dynamics are interconnected, with evidence showing that elevated filamentous actin (F-actin) negatively regulates primary cilia length. Loss of the cytoskeletal protein SPECC1L, which itself does not localize to cilia, leads to increased F-actin and shortened cilia. Depolymerizing F-actin in mutant cells restored cilia lengths, substantiating this inverse relationship. In cells harboring a allele lacking only the coiled-coil domain 2, intracellular regions with both elevated and reduced F-actin were observed together with cilia shortening. Notably, F-actin was decreased at the ciliary base, suggesting that a different F-actin subpopulation contributes to the inverse relationship. We also identified a genetic interaction between and , which encodes an intraflagellar transport-A (IFT-A) protein. Double or compound heterozygotes for and exhibited a higher penetrance of cleft palate compared to heterozygotes alone. Together, these findings reveal a role for SPECC1L in cytoskeletal regulation of ciliogenesis affecting palate development. - Source: PubMed
Publication date: 2025/11/05
Hufft-Martinez Brittany MThalman Dana NTran An JGoering Jeremy PStetsiv MartaMoedritzer MichaelWilson Sarah CWang Henry HTran Pamela VSaadi Irfan