The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin. [5] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family.

Mar 30, 2025 · SPAST (Spastin) is a Protein Coding gene. Diseases associated with SPAST include Spastic Paraplegia 4, Autosomal Dominant and Hereditary Spastic Paraplegia. Among its related pathways are Cell Cycle, Mitotic and Separation of Sister Chromatids.

Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene (located on 2p22.3), which encodes for an enzyme called spastin [7, 8]. SPG4 is the most common autosomal-dominant form of HSP, accounting for approximately 40% of …

Mutations in the SPAST gene cause spastic paraplegia type 4. The gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons).

The SPAST gene provides instructions for producing a protein called spastin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins.

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery. A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.

Apr 17, 2003 · Spastic paraplegia 4 (SPG4; also known as SPAST-HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. Sphincter disturbances are very common.

Feb 9, 2025 · Title: SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery.

Using a positional cloning strategy based on the spastic paraplegia-4 (SPG4; 182601) candidate region on chromosome 2p22-p21, Hazan et al. (1999) identified a gene encoding a member of the AAA protein family (see 601681), which they named 'spastin' (SPAST).

Autosomal dominant SPG4 is caused by genetic changes in the SPAST gene. Summary. Autosomal dominant spastic paraplegia type 4 (Autosomal dominant SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner.