CTNS - cystinosin, lysosomal cystine transporter Gene

Homo sapiens

Also known as PQLC4; SLC66A4; CTNS-LSB

Gene ID: 1497 | Gene type: protein coding

About CTNS

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,636,459-3,663,103 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and is associated with 8 phenotypes. Ubiquitous expression in testis (RPKM 9.6), adrenal (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

CTNS Products(7)

mRNA	Protein	Name
NM_001031681.3	NP_001026851.2	cystinosin isoform 1 precursor
NM_001374492.1	NP_001361421.1	cystinosin isoform 1 precursor
NM_001374493.1	NP_001361422.1	cystinosin isoform 3
NM_001374494.1	NP_001361423.1	cystinosin isoform 3
NM_001374495.1	NP_001361424.1	cystinosin isoform 3
NM_001374496.1	NP_001361425.1	cystinosin isoform 3
NM_004937.3	NP_004928.2	cystinosin isoform 2 precursor

CTNS Protein Structure

PQ-loop

0
100
200
300
367 a.a.

Protein Preferred Names

Protein Names

cystinosin

cystinosis nephropathic

Related Diseases

Diseases

Alias

Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type

Juvenile Nephropathic Cystinosis	Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic
Cystinosis, Intermediate	Intermediate Cystinosis
Juvenile Cystinosis	CTNSJAN
Cystinosis Intermediate

Cystinosis, Adult Nonnephropathic

Cystinosis, Ocular Nonnephropathic	Ocular Cystinosis
Cystinosis, Benign Nonnephropathic	Adult-Onset Cystinosis
Non-Nephropathic Cystinosis	Cystinosis, Adult, Non-Nephropathic Type
CTNSANN	Cystinosis Adult Nonnephropathic
Cystinosis Benign Nonnephropathic	Cystinosis Ocular Nonnephropathic
Cystinosis, Benign, Nonnephropathic

Cystinosis, Nephropathic

Cystinosis, Atypical Nephropathic	Nephropathic Cystinosis
CTNS	Lysosomal Cystine Transport Protein, Defect Of
Cystinosin, Defect Of	Cystinosis, Nephropathic Type
Cystinosis Atypical Nephropathic	Cystinosis Infantile Nephropathic
Defect Of Cystinosin	Defect Of Lysosomal Cystine Transport Protein
Fanconi Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Conjunctival Deposit

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Corneal Deposit

Deposits - Cornea

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Osteogenesis Imperfecta, Type Vi

OI6	Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type Vi	Oi Type Vi
Oi Type 6	Osteogenesis Imperfecta Type
Serpinfi- Related Osteogenesis Imperfecta	Osteogenesis Imperfecta 6
Oi-Vi

Corneal Degeneration

Degenerative Corneal Opacity

Filamentary Keratitis

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03313	CTNS Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CTNS	MGD	MGI:1932872
Felis catus	CTNS	VGNC	VGNC:61259
Rattus norvegicus	CTNS	RGD	RGD:1308466
Macaca mulatta	CTNS	VGNC	VGNC:71548
Bos taurus	CTNS	VGNC	VGNC:27807
Canis familiaris	CTNS	VGNC	VGNC:39703