Primary Identifier | IPR033512 | Type | Family |
Short Name | TFG |
description | TFG (TRK-fused gene) is localised at endoplasmic reticulum (ER) exit sites and modulates ER export []. It may function at the ER/ERGIC interface to locally concentrate COPII-coated transport carriers and link exit sites on the ER to ERGIC membranes []. It is also an inhibitory regulator of the ubiquitin-proteasome system [, ]. Mutations in the TFG gene cause Okinawa hereditary motor and sensory neuropathy (HMSNO) []and spastic paraplegia 57, autosomal recessive (SPG57) []. |