Symbol
Name
ID
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Synonyms
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AP-3, beta3A, Hps2, recombination induced mutation 2, rim2
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Genetic Map
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(58)
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Alleles
and
phenotypes
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All alleles(49) :
Targeted, knock-out(1)
Targeted, other(1)
Gene trapped(32)
Spontaneous(14)
Chemically induced(1)
| Homozygous mutants exhibit hypopigmentation, elevated kidney levels of lysosomal enzymes, platelet storage pool deficiency, reduced ipsilateral projections from the retina to brain, reduced sensitivity of dark-adapted retina and shortened life span. |
Associated Human Diseases (3)
Alleles Annotated to Human Diseases (2)
Phenotype Images (7)
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Polymorphisms
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PCR(4)
SNPs within 2kb(1391 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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cDNA source data(12)
External Resources:
Allen Brain Atlas
GEO
ArrayExpress
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Molecular
reagents
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All nucleic(29)
Genomic(12)
cDNA(13)
Primer pair(4)
Microarray probesets(3)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR002553 |
Clathrin/coatomer adaptor, adaptin-like, N-terminal |
| IPR011989 |
Armadillo-like helical |
| IPR016024 |
Armadillo-type fold |
| IPR017108 |
Adaptor protein complex AP-3, beta subunit |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:104625
Russell LB et al.,
"Steel (Sl) and Pearl (pe)"
Mouse News Lett 1953;8():14
(Latest)
J:145883
Salazar G et al.,
"Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells."
J Biol Chem 2009 Jan 16;284(3):1790-802
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All references(72)
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Other
accession IDs
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MGD-MRK-13224, MGI:1197525, MGI:2145332, MGI:2145497, MGI:97536
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Analysis Tools
MGI BioMart
