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Rabbit Anti-SPG3A/FITC Conjugated antibody
background:
Atlastins are Golgi-localized, integral membrane proteins that function as GTPases. The Atlastin proteins, also designated SPG3A and guanylate-binding protein 3, comprise a Dynamin superfamily that plays a role in axonal maintenance. Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder that is characterized by retrograde axonal degeneration. HSP primarily affects long corticospinal neurons and causes spastic lower extremity weakness. Spastin, a microtubule (MT)-severing AAA ATPase, is a binding partner of Atlastin that is involved in membrane dynamics. This Spastin/Atlastin binding may be involved in the biochemical pathway that leads to HSP development. Mutations in the Atlastin gene (SPG3A) account for approximately 10% of all autosomal dominant HSPs, while mutations in the Spastin gene (SPG4) account for almost 40%.
Function:
GTPase tethering membranes through formation of trans-homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.
Subunit:
Homooligomer. Interacts (via N-terminal region) withMAP4K4 (via CNH regulatory domain). Interacts with REEP5, RTN3 andRTN4 (via the transmembrane region). Interacts with SPAST;interaction is direct. May interact with TMED2. Interacts withREEP1.
Subcellular Location:
Endoplasmic reticulum membrane. Golgi apparatus membrane. Cell projection > axon.
Tissue Specificity:
Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the cerebral cortex and the hippocampus of the brain. Expressed in upper and lower motor neurons (at protein level).
DISEASE:
Defects in ATL1 are the cause of spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]; also known as Strumpell-Lorrain syndrome. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.
Similarity:
Belongs to the GBP family. Atlastin subfamily.
Database links:
Entrez Gene: 51062 Human
Entrez Gene: 73991 Mouse
Entrez Gene: 362750 Rat
Entrez Gene: 535424 Cow
Omim: 606439 Human
SwissProt: Q58D72 Cow
SwissProt: Q8WXF7 Human
SwissProt: Q8SH66 Mouse
SwissProt: Q6PST4 Rat
Unigene: 584905 Human
Unigene: 474462 Mouse
Unigene: 135117 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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