AP1B1 Chromosome 22
Adaptor related protein complex 1 subunit beta 1
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What This Gene Does
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|MicroRNA protein coding host genes|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000100280
Associated Conditions (1)
Autosomal recessive keratitis-ichthyosis-deafness syndrome
Key Variants
RS2148022135
Likely pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS1160266009
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS1334834057
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS1602683532
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS1602749299
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS1602761438
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS2147978539
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS2147995205
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS2517758542
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
RS780548317
Pathogenic
Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148022135 | Health Risk | Likely pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS1160266009 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS1334834057 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS1602683532 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS1602749299 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS1602761438 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2147978539 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2147995205 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS2517758542 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |
| RS780548317 | Health Risk | Pathogenic | Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome |