Fa2h antibody - C-terminal region (ARP33121_P050)
- Known as:
- Fa2h (anti-) - C-terminal region (ARP33121_P050)
- Catalog number:
- arp33121_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- Fa2h antibody - C-terminal region (ARP33121_P050)
Related genes to: Fa2h antibody - C-terminal region (ARP33121_P050)
- Gene:
- FA2H NIH gene
- Name:
- fatty acid 2-hydroxylase
- Previous symbol:
- FAXDC1, SPG35
- Synonyms:
- FAAH, FLJ25287
- Chromosome:
- 16q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-27
- Date modifiied:
- 2016-10-05
Related products to: Fa2h antibody - C-terminal region (ARP33121_P050)
Related articles to: Fa2h antibody - C-terminal region (ARP33121_P050)
- Autosomal recessive spastic paraplegia 35 (SPG35), also known as Fatty acid hydroxylase-associated neurodegeneration (FAHN), is a rare recessive neurodegenerative disorder with or without ataxia, dystonia, and other neurological findings. It is caused by genetic variants in , which encodes fatty acid 2-hydroxylase. - Source: PubMed
Publication date: 2026/03/05
Holla Vikram VKumari RiyankaSriram NeeharikaKamble NitishSaini JitenderYadav RaviMuthusamy BabylakshmiPal Pramod Kumar - Rare brain disorders often present with changes in brain volume, and variation in brain volume is known to be highly heritable. Recent work studying brain volume variation has largely focused on common variants and structural variants. Rare variants often have large effect sizes and clearer connections to biological mechanisms, but the role of rare variants has not been extensively studied. We performed rare-variant gene aggregation analysis for total brain volume and 43 regional brain volume phenotypes (n = 50,061) to identify genes associated with brain volume variation through loss-of-function and missense variants. We identified and replicated mutations in DISP1 and SCUBE2 that were associated with reduced cerebellar volume and suggest that this was mediated by modifying sonic hedgehog signaling. Additionally, we found an association between mutations in PTEN and macrocephaly that are likely mediated through the PI3K/mTOR pathway and hypothesize that mutations in FA2H influence cerebral white matter volume. Further, we identified 7 genes associated with volume variation in the population and rare brain diseases in ClinVar, supporting the role of mutations in these genes causing diseases and related subclinical phenotypes. Overall, we showed that rare-variant analysis can provide clarity on the biological processes connecting brain volume and disease. - Source: PubMed
Publication date: 2026/02/12
Wightman Douglas PMaciel Bernardo A P CBrouwer Rachel Mvan den Heuvel Martijn PPosthuma Danielle - Parkinson's disease (PD) is a common neurodegenerative disease. Abnormal iron metabolism is closely associated with PD risk. This study aimed to identify key iron metabolism-related genes (IMRGs) in the substantia nigra (SN) that affect PD progression. - Source: PubMed
Publication date: 2026/01/27
Chen KaidongHao WanyuJi YiXu BinfenLu LiujiaZhang RuixuanLu YaoChen KefeiWang FengHu XiaoyunZhang LiFang Xiangming - Childhood-onset movement disorders are clinically and genetically heterogeneous, with over 500 implicated genes. Standard clinical genetic testing, including exome sequencing, has limited sensitivity for certain variants, including repeat expansions, structural variants (SVs), copy number variants (CNVs), and deep intronic changes. We evaluated the diagnostic utility of short-read whole genome sequencing (srWGS) and, in selected cases, long-read genome sequencing (lrWGS) in a real-world cohort of children and young adults with early-onset progressive movement disorders and prior nondiagnostic genetic testing. One hundred individuals (<30 years) with progressive movement disorders with a suspected genetic etiology were recruited from a tertiary pediatric movement disorders program. All had prior nondiagnostic testing. SrWGS (Illumina NovaSeq 6000) assessed single nucleotide variants (SNVs), CNVs, SVs, and repeat expansions; lrWGS (Pacific Biosciences) was applied to select unsolved trios. Variants were reviewed by a multidisciplinary team using standard variant interpretation guidelines and phenotype correlation. A molecular diagnosis was achieved in 27% (27/100) of cases, and candidate variants were identified in an additional 33% (33/100). Among solved cases, 81.5% (22/27) were identified from exome-level data, while 18.5% (5/27) required genome-level analysis to detect variants such as repeat expansions in HTT and FXN, an intragenic duplication in MECP2, an Alu insertion in ATM, and a deletion in FA2H. Genome-level analysis contributed an additional diagnostic yield of 5% (5/100) only. Notably, in 33.3% (9/27) of solved cases, variants had been previously reported but not recognized as diagnostic. LrWGS of 14 unsolved trios did not yield additional diagnoses. SrWGS provided a modest incremental yield over exome sequencing in early-onset movement disorders, with most diagnoses achieved through reanalysis of exome-level data. Findings highlight the importance of iterative variant interpretation and the need for improved analytic pipelines to fully realize the potential of genome sequencing. - Source: PubMed
Publication date: 2026/02/05
Schierbaum LucaGonzalez Saez-Diez EnriqueTam AmyRong JoshuaZubair UmarBernardi KaterinaYang KathrynQuiroz VicenteZaman ZainabSaffari AfshinCarty SiofraAgianda Habibah A PAlexandrescu SandaEichler FlorianSveden AbigailChopra MayaCalame Daniel GDanzi Matt CZuchner StephanEbrahimi-Fakhari Darius - We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_34delTCT (p.Phe11del) in FA2H gene in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (ACMG: PM2,PM4,PP4-Moderate). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling. - Source: PubMed
Publication date: 2025/09/26
Roy SubhajitMailankody PoojaArunachal GauthamMahale Rohan RPadmanabha Hansashree