SPG21 gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

From UniProt:

May play a role as a negative regulatory factor in CD4-dependent T-cell activation.

From NCBI Gene:

  • Mast syndrome

From UniProt:

Spastic paraplegia 21, autosomal recessive (SPG21): A 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. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities. [MIM:248900]

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31

Molecular Location: base pairs 64,963,021 to 64,989,946 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31
  • ACP33
  • BM-019
  • GL010
  • MAST