Adaptor-Related Protein Complex 4, Mu-1 Subunit

Alternative Names

  • AP4M1
  • Mu-Adaptin-Related Protein 2
  • Mu-ARP2
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OMIM Number

602296

NCBI Gene ID

9179

Uniprot ID

O00189

Length

8,246 bases

No. of Exons

16

No. of isoforms

1

Protein Name

AP-4 complex subunit mu-1

Molecular Mass

49977 Da

Amino Acid Count

453

Genomic Location

chr7:100,100,794-100,109,039

Gene Map Locus
7q22.1

Description

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004722.4:c.952C>TSaudi ArabiaNC_000007.14:g.100105981C>TPathogenicLikely PathogenicSpastic Paraplegia 50, Autosomal RecessiveNG_016312.1:g.9475C>T; NM_004722.4:c.952C>T; NP_004713.2:p.Arg318Ter730882249183357
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