CTNS |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CTNS (HGNC:2518) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- cystinosin, lysosomal cystine transporter
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CTNS-LSB, PQLC4, SLC66A4
- %HI
- 58.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.76(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:3539753-3566397 NCBI Ensembl UCSC GRCh38/hg38: chr17:3636459-3663103 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004937.3 ENST00000046640.9 (Read more about MANE Select)
- Function
- Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, v... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-32498
ClinGen Curation ID:
CCID:006955
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- nephropathic cystinosis Monarch
HI Evidence Comments:
Loss of function mutations in CTNS are associated with the autosomal recessive condition cystinosis. A 57 kb deletion that involves ~10 exons of CTNS is detected as one of the mutations in ~40% of Northern Europeans with nephropathic cystinosis. Heterozygous carriers are unaffected.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)