Entity Details

Primary name KREMEN1
Entity type gene
Source Source Link

Details

PrimaryID83999
RefseqGeneNG_052986
SymbolKREMEN1
Namekringle containing transmembrane protein 1
Chromosome22
Location22q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKREM1_HUMAN

GO terms

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GOName
GO:0005886 plasma membrane
GO:0006915 apoptotic process
GO:0007154 cell communication
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016055 Wnt signaling pathway
GO:0030279 negative regulation of ossification
GO:0043025 neuronal cell body
GO:0048681 negative regulation of axon regeneration
GO:0060173 limb development
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0090090 negative regulation of canonical Wnt signaling pathway

Diseases

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Disease IDSourceNameDescription
617392 OMIMEctodermal dysplasia 13, hair/tooth type (ECTD13)A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
KREMEN1PCNAUniProt26030842 details
KREMEN1DKK1DIP, HPRD12050670 17804805 details