AP1G1 Chromosome 16
Adaptor related protein complex 1 subunit gamma 1
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What This Gene Does
Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing|Adaptor related protein complex 1|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000166747
Associated Conditions (6)
Inborn genetic diseases
Usmani-Riazuddin syndrome
autosomal dominant
Neurodevelopmental disorder
See cases
autosomal recessive
Key Variants
RS148838983
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2145525235
Conflicting classifications of pathogenicity
Usmani-Riazuddin syndrome, autosomal dominant, Inborn genetic diseases
Health Risk
RS575140567
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2032319236
Likely pathogenic
Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome
Health Risk
RS2145428329
Likely pathogenic
Health Risk
RS2145462890
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2543500655
Likely pathogenic
Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome
Health Risk
RS2543555931
Likely pathogenic
See cases, See cases
Health Risk
RS1333884260
Pathogenic
Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome
Health Risk
RS2145472327
Pathogenic
Usmani-Riazuddin syndrome, autosomal recessive, Usmani-Riazuddin syndrome
Health Risk
RS2145525133
Pathogenic
Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome
Health Risk
RS2145525136
Pathogenic
Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148838983 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2145525235 | Health Risk | Conflicting classifications of pathogenicity | Usmani-Riazuddin syndrome, autosomal dominant, Inborn genetic diseases |
| RS575140567 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2032319236 | Health Risk | Likely pathogenic | Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome |
| RS2145428329 | Health Risk | Likely pathogenic | — |
| RS2145462890 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2543500655 | Health Risk | Likely pathogenic | Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome |
| RS2543555931 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1333884260 | Health Risk | Pathogenic | Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome |
| RS2145472327 | Health Risk | Pathogenic | Usmani-Riazuddin syndrome, autosomal recessive, Usmani-Riazuddin syndrome |
| RS2145525133 | Health Risk | Pathogenic | Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome |
| RS2145525136 | Health Risk | Pathogenic | Usmani-Riazuddin syndrome, autosomal dominant, Usmani-Riazuddin syndrome |
| RS2543500511 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2543526102 | Health Risk | Pathogenic | Usmani-Riazuddin syndrome, autosomal recessive, autosomal dominant |