cystinosin, lysosomal cystine transporter

Summary
Gene Symbol
  • CTNS
Aliases
  • CTNS-LSB
  • PQLC4
  • SLC66A4
Organism
Homo sapiens (human)
External Links
NCBI Gene
1497
HGNC
2518
KEGG Gene ID
hsa:1497
PubChem
1497
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Lysosome
  • Melanin biosynthesis
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
  • Symport
  • Transmembrane helix
  • Transport
Proteins
Displaying all 4 entries
UniProt Protein Name
O60931
I3L4A9
A0A0S2Z3K3
A0A0S2Z3I9
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K12386
Name
cystinosin
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 102 in total
DO ID Disease Name Source
DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L
DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q
DOID:0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S
DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y
DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O
DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P
DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T
DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U
DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M
The Human Phenotype Ontology
Displaying entries 11 - 20 of 99 in total
HPO ID HPO Term
HP:0000488 Retinopathy
HP:0000495 Recurrent corneal erosions
HP:0000505 Visual impairment
HP:0000531 Corneal crystals
HP:0000580 Pigmentary retinopathy
HP:0000613 Photophobia
HP:0000618 Blindness
HP:0000787 Nephrolithiasis
HP:0000790 Hematuria
HP:0000819 Diabetes mellitus
Displaying all 6 entries
Disease ID Disease Name
OMIM:219800
  • nephropathic cystinosis
ORPHA:411629
  • nephropathic infantile cystinosis
OMIM:219900
  • juvenile nephropathic cystinosis
ORPHA:411641
  • ocular cystinosis
ORPHA:411634
  • juvenile nephropathic cystinosis
OMIM:219750
  • ocular cystinosis

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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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