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General Information
ZIRC
ZFIN ID: ZDB-GENE-030131-2752
Gene Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Gene Symbol: plekhm1
Sequence Ontology ID : SO:0000704

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Previous Names: wu:fc17c08, wu:fc23c01, wu:fc29h10, zgc:158281

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(Including Attributions)
Location: Chr: 12 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to several human genes including PLEKHM1 (pleckstrin homology and RUN domain containing  ...
GENE EXPRESSION
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa6231 Point Mutation Unknown Splice Site ENU
PHENOTYPE No data available
DISEASE ASSOCIATED WITH plekhm1 HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
autosomal recessive osteopetrosis 6 ?Osteopetrosis, autosomal recessive 6 611497
Osteopetrosis, autosomal dominant 3 618107
DISEASE ASSOCIATED WITH plekhm1 VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY No data available
TRANSCRIPTS
Type Name Length (bp) Analysis
mRNA plekhm1-201 (1) 6274
plekhm1-202 (1) 5364
GENE PRODUCT DESCRIPTION No description available
INTERACTIONS AND PATHWAYS
ANTIBODIESNo data available
PLASMIDSNo data available
CONSTRUCTS WITH SEQUENCES FROM plekhm1 No data available
MARKER RELATIONSHIPS
plekhm1Contained in: [BAC] CH211-93E11 (1) (order this)
plekhm1Encodes: [EST] fc17c08, fc23c01, fc29h10
[cDNA] MGC:158281 (1) (order this)
SEQUENCE INFORMATION
Type Accession # Length (bp/aa) Analysis
RNA RefSeq:NM_001089403 (1) 4532bp
Genomic GenBank:BX323464 (1) 167058bp
Select Tool
Polypeptide UniProtKB:A0A0R4IDQ8 (1) 1058aa
Sequence Clusters UniGene:33005 (1)
Sequence Information (all 22)
ORTHOLOGY for plekhm1 (Chr: 12)
CITATIONS (11)