AP4B1 Chromosome 1
Adaptor related protein complex 4 subunit beta 1
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What This Gene Does
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 4"
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000134262
Associated Conditions (8)
Hereditary spastic paraplegia 47
Inborn genetic diseases
Spastic paraplegia
Hereditary spastic paraplegia
Intellectual disability
AP4B1-related disorder
Abnormal brain morphology
Abnormality of the nervous system
Key Variants
RS1019204290
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
Health Risk
RS111785152
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Inborn genetic diseases, Hereditary spastic paraplegia 47
Health Risk
RS1210851910
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Spastic paraplegia, Hereditary spastic paraplegia 47
Health Risk
RS1256078127
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia, Hereditary spastic paraplegia 47
Health Risk
RS140699721
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
Health Risk
RS141417436
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Intellectual disability, Hereditary spastic paraplegia
Health Risk
RS149705131
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Hereditary spastic paraplegia 47
Health Risk
RS1553259191
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
Health Risk
RS200276550
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 47, Inborn genetic diseases
Health Risk
RS200301524
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
Health Risk
RS2526495275
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 47, Inborn genetic diseases
Health Risk
RS2526692527
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2101044378 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526507579 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526557123 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526582013 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526589151 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526631120 | Health Risk | Pathogenic | — |
| RS2526632804 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS2526690923 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS374894037 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Spastic paraplegia, Hereditary spastic paraplegia 47 |
| RS587783179 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Spastic paraplegia, Hereditary spastic paraplegia 47 |
| RS745580319 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS746462207 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS755756363 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS771888480 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS777248758 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 47, Spastic paraplegia |
| RS797045244 | Health Risk | Pathogenic | Hereditary spastic paraplegia 47, Spastic paraplegia, Hereditary spastic paraplegia 47 |
| RS879255396 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS879255397 | Health Risk | Pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS2101035173 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 47, Spastic paraplegia |
| RS529495094 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 47, AP4B1-related disorder |
| RS587779388 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 47, Inborn genetic diseases, Intellectual disability |
| RS762612591 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS767220480 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS773840258 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47 |
| RS776976178 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 47, Hereditary spastic paraplegia, Spastic paraplegia |