Adaptor-Related Protein Complex 4, Sigma-1 Subunit

Alternative Names

  • AP4S1
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OMIM Number

607243

NCBI Gene ID

11154

Uniprot ID

Q9Y587

Length

105,891 bases

No. of Exons

11

No. of isoforms

4

Protein Name

P-4 complex subunit sigma-1

Molecular Mass

17005 Da

Amino Acid Count

144

Genomic Location

chr14:31,025,106-31,130,996

Gene Map Locus
14q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001128126.1:c.295-3C>AUnited Arab EmiratesNC_000014.9:g.31080570C>ALikely Pathogenic, Pathogenic, Uncertain SignificancePathogenicSpastic Paraplegia 52, Autosomal RecessiveNG_031913.1:g.60465C>A; NM_001128126.1:c.295-3C>A185246578210218
NM_007077.4:c.c.138+3_138+6delLebanonchr14:31066333-31066336PathogenicPathogenicSpastic Paraplegia 52, Autosomal RecessiveNG_031913.1:g.46228_46231AAGT; NM_007077.4:c.c.138+3_138+6del876661295234925
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