| FITM2 Gene | |
|---|---|
| Symbol | FITM2 |
| Full Name | Fat Storage-Inducing Transmembrane Protein 2 |
| Location | 20q13.12 |
| NCBI Gene ID | [128991](https://www.ncbi.nlm.nih.gov/gene/128991) |
| OMIM | [615769](https://www.omim.org/entry/615769) |
| Ensembl | [ENSG00000101247](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101247) |
| UniProt | [Q8N8W4](https://www.uniprot.org/uniprot/Q8N8W4) |
| Associated Diseases | Neurodegeneration with brain iron accumulation, Dystonia, Developmental delay |
Ceruloplasmin is a human gene whose product fITM2 (Fat Storage-Inducing Transmembrane Protein 2) is an endoplasmic reticulum membrane protein involved in lipid droplet biogenesis and triglyceride storage. While initially characterized for its role in adipocyte lipid metabolism, FITM2 has emerged as a critical regulator of neuronal lipid homeostasis and mitochondrial function [1]. Variants in Ceruloplasmin have been implicated in Neurodegeneration with Brain Iron Accumulation (NBIA), Hereditary Spastic Paraplegia-like Phenotype, Developmental Disorders. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
FITM2 (Fat Storage-Inducing Transmembrane Protein 2) is an endoplasmic reticulum membrane protein involved in lipid droplet biogenesis and triglyceride storage. While initially characterized for its role in adipocyte lipid metabolism, FITM2 has emerged as a critical regulator of neuronal lipid homeostasis and mitochondrial function [1].
In neurons, FITM2 functions include:
FITM2 acts synergistically with FITM1 to partition triglycerides into lipid droplets, preventing accumulation of toxic lipid intermediates that can damage cellular membranes and organelles. In the brain, this function is particularly important for neurons with high metabolic demands and for maintaining the lipid-rich myelin sheath [3].
Biallelic FITM2 mutations cause a novel form of neurodegeneration with brain iron accumulation (NBIA). Clinical features include:
The pathogenic mechanism involves disrupted lipid homeostasis leading to mitochondrial dysfunction, oxidative stress, and iron dysregulation in susceptible brain regions.
FITM2 variants have been associated with:
Early-onset presentations include:
FITM2 expression patterns relevant to neurodegeneration:
FITM2 is co-expressed with lipid metabolism genes and shows elevated expression during periods of active myelination [5].
For FITM2-related NBIA: