NIPA like domain containing 4

Summary
Gene Symbol
  • NIPAL4
Organism
Homo sapiens (human)
NCBI Gene
348938
PubChem
348938
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Ichthyosis
  • Ion transport
  • Magnesium
  • Receptor
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q0D2K0
  • Ichthyin
  • NIPA-like protein 4
  • Non-imprinted in Prader-Willi/Angelman syndrome region protein 4
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
membrane
plasma membrane
OrthoDB (Group)
Group level
Eukaryota
Group Name
magnesium transporter
Functional Category
  • E: Amino acid transport and metabolism
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0060715 autosomal recessive congenital ichthyosis 6
DOID:2476 hereditary spastic paraplegia

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024