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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AP1B1
adaptor related protein complex 1 subunit beta 1
Chromosome 22 · 22q12.2
NCBI Gene: 162Ensembl: ENSG00000100280.18HGNC: HGNC:554UniProt: Q10567
167PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusprotein bindingprotein kinase bindingAP-1 adaptor complexichthyosiform erythroderma, corneal involvement, and hearing lossHIV infectionMEDNIK syndromeneurodegenerative disease
✦AI Summary

AP1B1 encodes the β1 subunit of the heterotetrameric adaptor protein 1 (AP-1) complex, a clathrin-associated protein essential for vesicular trafficking and protein sorting 1. The AP-1 complex mediates recruitment of clathrin to membranes and recognition of sorting signals in transmembrane cargo, functioning primarily in the trans-Golgi network and endosomes 2. Loss of AP1B1 function destabilizes the entire AP-1 complex; affected cells show reduced γ subunit levels, abnormal vesicle accumulation, and disrupted epidermal differentiation and junction proteins 1. Pathogenic biallelic variants in AP1B1 cause autosomal recessive Keratitis-Ichthyosis-Deafness syndrome (KIDAR), a rare multisystem disorder 3. KIDAR patients present with ichthyosis, palmoplantar keratoderma, progressive sensorineural hearing loss, photophobia, keratitis, and failure to thrive 4. Additional features include enteropathy, developmental delay, thrombocytopenia, and abnormal copper metabolism, reflecting impaired trafficking of copper-transporting ATPases ATP7A and ATP7B 2. Notably, AP1B1 deletions also contribute to intellectual disability when occurring as larger chr22 microdeletions 5. With ten reported KIDAR cases to date, AP1B1 represents a critical regulator of cellular homeostasis whose dysfunction causes widespread epithelial and sensory dysfunction 2.

Sources cited
1
AP1B1 encodes β subunit of AP-1 complex mediating endomembrane trafficking; loss causes destabilization of AP-1 complex with reduced γ subunit and abnormal vesicles
PMID: 31630788
2
AP-1 complex function in protein trafficking; AP1B1 loss-of-function causes KIDAR with enteropathy, failure to thrive, and copper metabolism abnormalities
PMID: 40101690
3
KIDAR clinical features include ichthyosis, palmoplantar keratoderma, sensorineural deafness, sparse brittle hair, and multisystem involvement
PMID: 37657632
4
KIDAR phenotypic spectrum includes keratitis, erythroderma, progressive hearing loss, developmental delay, and photophobia
PMID: 35144013
5
AP1B1 gene deletion in 22q12 microdeletions associated with intellectual disability in NF2 patients
PMID: 36077416
Disease Associationsⓘ21
ichthyosiform erythroderma, corneal involvement, and hearing lossOpen Targets
0.71Strong
HIV infectionOpen Targets
0.50Moderate
MEDNIK syndromeOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
Intellectual disabilityOpen Targets
0.19Weak
Abnormality of the skinOpen Targets
0.18Weak
Failure to thriveOpen Targets
0.18Weak
Global developmental delayOpen Targets
0.18Weak
Hearing abnormalityOpen Targets
0.18Weak
primary ciliary dyskinesiaOpen Targets
0.07Suggestive
HeterotaxiaOpen Targets
0.06Suggestive
laterality defects, autosomal dominantOpen Targets
0.05Suggestive
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.04Suggestive
Ivemark syndromeOpen Targets
0.04Suggestive
right atrial isomerismOpen Targets
0.04Suggestive
visceral heterotaxyOpen Targets
0.04Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 53Open Targets
0.04Suggestive
Keratitis-ichthyosis-deafness syndrome, autosomal recessiveUniProt
Pathogenic Variants12
NM_001127.4(AP1B1):c.863del (p.Leu288fs)Pathogenic
AP1B1-related disorder|not provided
★☆☆☆2024→ Residue 288
NM_001127.4(AP1B1):c.2T>C (p.Met1Thr)Likely pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
★☆☆☆2021→ Residue 1
NM_001127.4(AP1B1):c.667del (p.Leu223fs)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2025→ Residue 223
NM_001127.4(AP1B1):c.2335del (p.Leu779fs)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 779
NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 223
NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 618
NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 893
NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 421
NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2022→ Residue 108
NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2020→ Residue 144
NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2020→ Residue 792
NM_001127.4(AP1B1):c.38-1G>APathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome
☆☆☆☆2020
View on ClinVar ↗
Related Genes
AP4M1Protein interaction100%CLTCL1Protein interaction100%VAMP8Protein interaction100%AP2B1Protein interaction97%KIF13AProtein interaction96%AP5M1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
70%
Lung
67%
Brain
62%
Heart
44%
Ovary
37%
Gene Interaction Network
Click a node to explore
AP1B1AP4M1CLTCL1VAMP8AP2B1KIF13AAP5M1
PROTEIN STRUCTURE
Preparing viewer…
PDB7R4H · 2.34 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.36 [0.27–0.48]
RankingsWhere AP1B1 stands among ~20K protein-coding genes
  • #2,666of 20,598
    Most Researched167 · top quartile
  • #2,658of 5,498
    Most Pathogenic Variants12
  • #2,756of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedAP1B1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.
PMID: 37657632
Eur J Med Genet · 2023
1.00
2
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
PMID: 35144013
Eur J Med Genet · 2022
0.90
3
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
PMID: 31630788
Am J Hum Genet · 2019
0.80
4
Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant.
PMID: 40101690
Mol Genet Metab · 2025
0.70
5
Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts.
PMID: 10508838
Genome Res · 1999
0.68