Adaptor-Related Protein Complex 4, Epsilon-1 Subunit

Alternative Names

  • AP4E1
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OMIM Number

607244

NCBI Gene ID

23431

Uniprot ID

Q9UPM8

Length

97,332 bases

No. of Exons

23

No. of isoforms

2

Protein Name

AP-4 complex subunit epsilon-1

Molecular Mass

127287 Da

Amino Acid Count

1137

Genomic Location

chr15:50,908,568-51,005,899

Gene Map Locus
15q21.2

Description

This gene encodes a member of the adaptor complexes large 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 a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007347.4:c.1967-91= United Arab EmiratesNC_000015.10:g.50983931=AssociationType 2 Diabetes Mellitus; ObesityNG_031875.2:g.80260= ; NM_007347.4:c.1967-91=2306335
NM_007347.5:c.3214_3215delUnited Arab EmiratesNC_000015.10:g.51001144_51001145delLikely PathogenicSpastic Paraplegia 51, Autosomal RecessiveNG_031875.2:g.97473_97474del; NM_007347.5:c.3214_3215del; NP_031373.2:p.Leu1072AlafsTer10757657323
NM_007347.5:c.542+5_542+8delSyriaNC_000015.10:g.50925224_50925227delLikely Pathogenic, PathogenicLikely PathogenicSpastic Paraplegia 51, Autosomal RecessiveNG_031875.2:g.21553_21556del; NM_007347.5:c.542+5_542+8del; NP_031373.2:p.?21411474501344794
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