CTSD Chromosome 11

Cathepsin D

80 variants 80 Health Risk

Upload your DNA to see your personal genotypes for variants in CTSD.

What This Gene Does

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]

Gene Info

Gene Group

"Cathepsins|Peptidase family A1"

Locus Type

gene with protein product

Location

11p15.5

Ensembl

ENSG00000117984

Associated Conditions (6)

Neuronal ceroid lipofuscinosis

Inborn genetic diseases

Neuronal ceroid lipofuscinosis 10

CTSD-related disorder

Severe microlissencephaly

Exaggerated startle response

Key Variants

RS1021613206

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis

Health Risk

RS1057519591

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10

Health Risk

RS113936232

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10

Health Risk

RS139154882

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis

Health Risk

RS140238987

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases

Health Risk

RS140563067

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CTSD-related disorder

Health Risk

RS142330967

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis

Health Risk

RS143517230

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases

Health Risk

RS146073498

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases

Health Risk

RS147553344

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis

Health Risk

RS147641822

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases

Health Risk

RS147800688

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases

Health Risk

All Variants (80)

RSID	Category	Clinical Significance	Conditions
RS1021613206	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS1057519591	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS113936232	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS139154882	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS140238987	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS140563067	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CTSD-related disorder
RS142330967	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS143517230	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
RS146073498	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS147553344	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS147641822	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
RS147800688	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1554962286	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1565018468	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1845849420	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS1845849997	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS368152533	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS368529527	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS369602025	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS370847523	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS371858126	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS372999684	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS374010531	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, CTSD-related disorder
RS374540411	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis 10
RS531682785	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, CTSD-related disorder, Neuronal ceroid lipofuscinosis
RS535140505	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS587780914	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS587780917	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS746243061	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS748547852	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS755867394	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS756112449	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS757712173	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10, Inborn genetic diseases
RS762444592	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CTSD-related disorder
RS763474887	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS775460488	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS777645484	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, CTSD-related disorder
RS779278368	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS796052396	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052400	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS796052407	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis, Inborn genetic diseases, Neuronal ceroid lipofuscinosis
RS886048064	Health Risk	Conflicting classifications of pathogenicity	Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS1845791308	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2133659840	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493816828	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493817237	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493823379	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493830143	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493834457	Health Risk	Likely pathogenic	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS730882208	Health Risk	Likely pathogenic	Severe microlissencephaly, Exaggerated startle response, Severe microlissencephaly

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