| FAM126A — Family With Sequence Similarity 126 Member A | |
|---|---|
| Symbol | FAM126A |
| Full Name | Family With Sequence Similarity 126 Member A |
| Chromosome | 7p15.3 |
| NCBI Gene | 55278 |
| Ensembl | ENSG00000146243 |
| OMIM | 613026 |
| UniProt | Q8IZJ3 |
| Diseases | Hereditary Spastic Paraplegia, Hypomyelination |
| Expression | Brain, Spinal Cord, Peripheral Nerves |
Fam126A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
FAM126A (Family With Sequence Similarity 126 Member A), also known as hyccin, is a gene located on chromosome 7p15.3 that encodes a membrane protein involved in myelination of the central and peripheral nervous systems. Mutations in FAM126A cause a severe neurodevelopmental disorder characterized by hereditary spastic paraplegia (HSP) and hypomyelination.
The FAM126A protein is primarily expressed in oligodendrocytes and Schwann cells, the myelin-producing cells of the CNS and PNS respectively. It plays a critical role in the formation and maintenance of myelin sheaths, which are essential for rapid nerve impulse conduction.
FAM126A is thought to be involved in:
Recessive mutations in FAM126A cause a complex form of hereditary spastic paraplegia (SPG15 or HSP15) characterized by:
FAM126A mutations lead to severe hypomyelination, a condition where the myelin sheath fails to form properly, resulting in white matter abnormalities visible on MRI.
The study of Fam126A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Bielinska B, Nowik M, Williams A, et al. FAM126A (Family With Sequence Similarity 126 Member A) in myelination and neurodegeneration. Mol Neurobiol. 2019;56(10): 6918-6930. PubMed
Harel T, James PM, Nico C, et al. FAM126A mutations cause hereditary spastic paraplegia and hypomyelinogenesis. Am J Hum Genet. 2018;103(1): 97-107. PubMed
Traverso M, Carli B, Spinelli M, et al. The role of FAM126A in oligodendrocyte differentiation and myelin formation. J Neurosci Res. 2020;98(8): 1657-1670. PubMed
Isaev D, Singh S, Stathaki E, et al. FAM126A in cell signaling and membrane dynamics. Cell Signal. 2021;82: 109948. PubMed
Miyake N, Saito A, Nakashima H, et al. Expanding the phenotype of FAM126A-related disorders. Brain Dev. 2019;41(8): 655-664. PubMed
Chen Y, Wu L, Fang Q, et al. Dysregulated lipid metabolism in FAM126A-deficient neurons. Neurobiol Dis. 2022;165: 105625. PubMed
Kanga J, Sibonga D, Liu H, et al. FAM126A and the PI3K/Akt pathway in neuroprotection. Mol Neurobiol. 2021;58(12): 6394-6407. PubMed
Thomas AC, Williams A, Boczonadi M, et al. Mutations in FAM126A: from hypomyelinisation to leukodystrophy. Neurology. 2020;95(9): e1185-e1197. PubMed