TFG
There are several documented fusion oncoproteins encoded partially by TFG. TFG also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may function in the NF-kappaB pathway.
Function
Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252).
Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858).
Cellular Location
Endoplasmic reticulum
Localizes to endoplasmic reticulum exit site (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:27813252, PubMed:21478858).
Involvement in disease
Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO):
A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis.
Spastic paraplegia 57, autosomal recessive (SPG57):
A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations.