Gene: CTSD (cathepsin D) Homo sapiens
Symbol: CTSD
Name: cathepsin D
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. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cathepsin d (lysosomal aspartyl protease); ceroid-lipofuscinosis, neuronal 10; CLN10; CPSD; epididymis secretory sperm binding protein Li 130P; HEL-S-130P; lysosomal aspartyl peptidase; lysosomal aspartyl protease; MGC2311; OTTHUMP00000042282; OTTHUMP00000196039; OTTHUMP00000198692
Mus musculus : Ctsd (cathepsin D)  MGI
Rattus norvegicus : Ctsd (cathepsin D)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38111,752,752 - 1,763,992 (-)NCBIGRCh38hg38GRCh38
GRCh37111,773,982 - 1,785,222 (-)NCBIGRCh37hg19GRCh37
Build 36111,730,561 - 1,741,798 (-)NCBINCBI36hg18NCBI36
Build 34111,730,560 - 1,741,798NCBI
Celera111,812,103 - 1,823,339 (-)NCBI
Cytogenetic Map11p15.5NCBImapview
HuRef111,564,872 - 1,576,226 (-)NCBI
CHM1_1111,772,933 - 1,784,154 (-)NCBI

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on CTSD
Entrez Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Map Viewer
Vista + UCSC

RGD Object Information
RGD ID: 1351014
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2016-10-11
Status: ACTIVE