FAM126A — Family With Sequence Similarity 126 Member A
Introduction
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.
Overview
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.
Function
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:
Myelin biogenesis: Regulating the synthesis and assembly of myelin lipids and proteins
Oligodendrocyte differentiation: Supporting the maturation of oligodendrocyte precursor cells
Recessive mutations in FAM126A cause a complex form of hereditary spastic paraplegia (SPG15 or HSP15) characterized by:
Progressive lower limb spasticity and weakness
Intellectual disability
Thin corpus callosum
Cerebellar atrophy
Peripheral neuropathy
Hypomyelination
FAM126A mutations lead to severe hypomyelination, a condition where the myelin sheath fails to form properly, resulting in white matter abnormalities visible on MRI.
Key Publications
[FAM126A mutations cause a novel form of hereditary spastic paraplegia (2007)](https://pubmed.ncbi.nlm.nih.gov/17273971/)
[Hyccin, a protein defective in HSP, is required for myelination (2009)](https://pubmed.ncbi.nlm.nih.gov/19307752/)
Background
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.
See Also
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External Links
[PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
[Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
[Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
[Bielinska B, Nowik M, Williams A, et al, FAM126A (Family With Sequence Similarity 126 Member A) in myelination and neurodegeneration (2019)](https://pubmed.ncbi.nlm.nih.gov/30859342/)
[Harel T, James PM, Nico C, et al, FAM126A mutations cause hereditary spastic paraplegia and hypomyelinogenesis (2018)](https://pubmed.ncbi.nlm.nih.gov/29937095/)
[Traverso M, Carli B, Spinelli M, et al, The role of FAM126A in oligodendrocyte differentiation and myelin formation (2020)](https://pubmed.ncbi.nlm.nih.gov/32377879/)
[Isaev D, Singh S, Stathaki E, et al, FAM126A in cell signaling and membrane dynamics (2021)](https://pubmed.ncbi.nlm.nih.gov/33493654/)
[Miyake N, Saito A, Nakashima H, et al, Expanding the phenotype of FAM126A-related disorders (2019)](https://pubmed.ncbi.nlm.nih.gov/31005571/)
[Chen Y, Wu L, Fang Q, et al, Dysregulated lipid metabolism in FAM126A-deficient neurons (2022)](https://pubmed.ncbi.nlm.nih.gov/35092873/)
[Kanga J, Sibonga D, Liu H, et al, FAM126A and the PI3K/Akt pathway in neuroprotection (2021)](https://pubmed.ncbi.nlm.nih.gov/34550482/)
[Thomas AC, Williams A, Boczonadi M, et al, Mutations in FAM126A: from hypomyelinisation to leukodystrophy (2020)](https://pubmed.ncbi.nlm.nih.gov/32675075/)