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Gene

AP4B1

adaptor related protein complex 4 subunit beta 1

Summary

Cytogenetic location
1p13.2
Coordinates
Chromosome 1: 113,894,194–113,904,799 (GRCh38)
Exons
10 exons across 10.6 kb
Protein
739 amino acids
Inheritance
Autosomal recessive
Also known as
BETA-4
Previous symbols
SPG47
MANE Select transcript
ENST00000369569.6NM_001253852.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 47Autosomal recessive

      Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.

      • 3 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How AP4B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where AP4B1 sits. AP4B1 and 10 genes near it on chromosome 1, from 113,399,497 to 114,399,496.Chromosome 11p13.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44113.4 Mb113.6 Mb113.8 Mb114 Mb114.2 MbMAGI3: 113,390,390–113,687,431, forward strandMAGI3PHTF1: 113,696,052–113,759,908, reverse strandPHTF1RSBN1: 113,761,429–113,812,551, reverse strandRSBN1PTPN22: 113,813,811–113,871,753, reverse strandPTPN22BCL2L15: 113,876,816–113,887,588, reverse strandBCL2L15AP4B1: 113,894,194–113,904,799, reverse strandAP4B1DCLRE1B: 113,904,403–113,914,140, forward strandDCLRE1BHIPK1: 113,929,324–113,977,869, forward strandHIPK1OLFML3: 113,979,024–114,035,572, forward strandOLFML3SYT6: 114,089,291–114,153,880, reverse strandSYT6TRIM33: 114,392,781–114,511,244, reverse strandTRIM33Diagram of AP4B1: 10 exons on the reverse strand of chromosome 1Exon 9: 4 known disease-causing sitesExon 8: 5 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 10: 113,894,194–113,895,492, 1,299 basesExon 9: 113,895,757–113,896,038, 282 basesExon 8: 113,896,258–113,896,465, 208 basesExon 7: 113,897,840–113,897,943, 104 basesExon 6: 113,898,718–113,898,801, 84 basesExon 5: 113,899,904–113,900,400, 497 basesExon 4: 113,901,236–113,901,383, 148 basesExon 3: 113,901,755–113,901,885, 131 basesExon 2: 113,902,638–113,902,862, 225 basesExon 1: 113,904,605–113,904,799, 195 bases109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.2 kb of the gene's 10.6 kb; 2,220 of those bases code for the protein.

How a genome test reads AP4B1

42

positions in AP4B1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 10.6 kb of AP4B1, introns included, not only the 3.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AP4B1 gene: adaptor related protein complex 4 subunit beta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ap4b1

Vancouver

Dante Labs. AP4B1 gene: adaptor related protein complex 4 subunit beta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ap4b1

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