Cathepsin D

Alternative Names

  • CTSD
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OMIM Number

116840

NCBI Gene ID

1509

Uniprot ID

P07339

Length

11,173 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Cathepsin D

Molecular Mass

44552 Da

Amino Acid Count

412

Genomic Location

chr11:1,752,754-1,763,926

Gene Map Locus
11p15.5

Description

This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001909.5:c.1155_1169dupSaudi ArabiaNC_000011.10:g.1753574_1753588dupLikely PathogenicPathogenicCeroid Lipofuscinosis, Neuronal, 10NG_008655.1:g.15406_15420dup; NM_001909.5:c.1155_1169dup; NP_001900.1:p.Phe389_Ile390insMetGlyAspValPhe730882208183293
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