rs754944359
This variant is located in the AP4S1 gene.
▶ClinVar annotation
Spastic paraplegia; Hereditary spastic paraplegia 52
View on ClinVar →▶Research that mentions this SNP (1)
▶SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degenerationCase reportN=29Hanna Örlén et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This clinical and genetic study investigated 29 patients from 16 Algerian families with hereditary spastic paraplegias (HSPs) using whole exome sequencing, achieving an 81.2% diagnostic rate by identifying pathogenic variants in 11 known HSP-causing genes. Five novel variants were identified: GBA2 c.1351C>T (p.Arg451Ter) in two sisters, SPG11 c.6530_6534del (p.Asp2177AlafsTer3) in three siblings, HPDL c.862T>C (p.Tyr288His), AMFR c.707+1G>A, and SPAST c.1076T>C (p.Ile359Thr) in two sisters with pure HSP. Most families showed autosomal recessive inheritance due to high consanguinity in Algeria, and the study highlights WES as an efficient diagnostic tool for genetically heterogeneous neurodegenerative diseases.
About AP4S1
This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]
View all AP4S1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…