Cystinosin

Alternative Names

  • CTNS

Associated Diseases

Cystinosis, Nephropathic
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OMIM Number

606272

NCBI Gene ID

1497

Uniprot ID

O60931

Length

26,636 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Cystinosin

Molecular Mass

41738 Da

Amino Acid Count

367

Genomic Location

chr17:3,636,468-3,663,103

Gene Map Locus
17p13.2

Description

CTNS gene encodes cystinosin, which is an integral lysosomal membrane protein with seven-transmembrane domains. Cystinosin transports cystine out of lysosomes and defects in this protein cause cystinosis, a lysosomal storage disorder.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004937.3:c.1013T>GSaudi Arabiachr17:3660278Cystinosis, NephropathicNG_012489.2:g.28811T>G; NM_004937.3:c.1013T>G ; NP_004928.2:p.Leu338Arg
NM_004937.3:c.1015G>A Arabchr17:3660280PathogenicPathogenicCystinosis, NephropathicNG_012489.2:g.28813G>A; NM_004937.3:c.1015G>A ; NP_004928.2:p.Gly339Arg1219081274455
NM_004937.3:c.18_21delArabchr17:3640224-3640227PathogenicPathogenicCystinosis, NephropathicNG_012489.2:g.8757_8760del; NM_004937.3:c.18_21del; NP_004928.2:p.Thr7fs786204501188834
NM_004937.3:c.422C>T Saudi Arabiachr17:3655313Likely Pathogenic, PathogenicLikely Pathogenic, PathogenicCystinosis, NephropathicNG_012489.2:g.23846C>T; NM_004937.3:c.422C>T ; NP_004928.2:p.Ser141Phe1436441738651886
NM_004937.3:c.530A>GSaudi Arabiachr17:3656555Cystinosis, NephropathicNG_012489.2:g.25088A>G; NM_004937.3:c.530A>G; NP_004928.2:p.Asn177Ser
NM_004937.3:c.562-1G>CSaudi Arabiachr17:3656675Cystinosis, NephropathicNG_012489.2:g.25208G>C; NM_004937.3:c.562-1G>C
NM_004937.3:c.61+5G>A Moroccochr17:3640272Cystinosis, NephropathicNG_012489.2:g.8805G>A; NM_004937.3:c.61+5G>A1407498555
NM_004937.3:c.681+1G>AUnited Arab EmiratesNC_000017.11:g.3656796G>APathogenicLikely PathogenicCystinosis, NephropathicNG_012489.1:g.25329G>A; NM_004937.3:c.681+1G>A; NP_004928.2:p.?749317721966528
NM_004937.3:c.681G>A Arab; Saudi Arabia; Un...NC_000017.11:g.3656795G>APathogenicPathogenicCystinosis, NephropathicNG_012489.2:g.25328G>A; NM_004937.3:c.681G>A ; NP_004928.2:p.Glu227=778414542553330
NM_004937.3:c.922G>A Morocco; Saudi Arabiachr17:3659927PathogenicPathogenicCystinosis, NephropathicNG_012489.2:g.28460G>A; NM_004937.3:c.922G>A ; NP_004928.2:p.Gly308Arg746307931267310
NM_004937.3:c.923G>AArabchr17:3659928Cystinosis, NephropathicNG_012489.2:g.28461G>A; NM_004937.3:c.923G>A; NP_004928.2:p.Gly308Glu
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