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  2. CTSA - cathepsin A Gene

CTSA - cathepsin A Gene

Homo sapiens

Also known as GSL; GLB2; NGBE; PPCA; PPGB

Gene ID: 5476 | Gene type: protein coding

About CTSA

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,891,335-45,898,820 (from NCBI)

This gene has 40 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 65.7), kidney (RPKM 65.3) and 25 other tissues.

Summary

This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active Enzyme. This Enzyme possesses deamidase, esterase and Carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]

CTSA Products(3)

mRNA Protein Name
NM_000308.4 NP_000299.3 lysosomal protective protein isoform b preproprotein
NM_001127695.3 NP_001121167.1 lysosomal protective protein isoform b preproprotein
NM_001167594.3 NP_001161066.2 lysosomal protective protein isoform c precursor

CTSA Protein Structure

Peptidase_S10

Peptidase_S10: Serine carboxypeptidase (39 - 476)

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  • 480 a.a.
Protein Preferred Names Protein Names

lysosomal protective protein

beta-galactosidase 2

Recombinant CTSA Proteins

Cat. No. Product Name Accession Purity
HY-P7745 Cathepsin A Protein, Human (HEK293, His, solution) P10619 (A29-Y480) ≥95%
HY-P7745A Cathepsin A Protein, Human (HEK293, His) P10619 (S69-Y480) ≥95%

Related Diseases

Diseases Alias
Galactosialidosis

Goldberg Syndrome

Neuraminidase Deficiency With Beta-Galactosidase Deficiency

Ppca Deficiency

GSL

Lysosomal Protective Protein Deficiency

Cathepsin A Deficiency

Neuraminidase/Beta-Galactosidase Expression

Protective Protein/Cathepsin A Deficiency

Ngbe

Cathepsin A Deficiency Of

Lysosomal Protective Protein Deficiency Of

Deficiency Of Cathepsin A

Neuraminidase Beta-Galactosidase Deficiency

Protective Protein Cathepsin A Deficiency

Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy

Carasal

Absolute Glaucoma

Blind Hypertensive Eye

Glaucoma Absolute

Glycoproteinosis

Sialidosis

Mucolipidosis Type I

Mucolipidoses

Cherry Red Spot Myoclonus Syndrome

Mucolipidosis I

Myoclonus Cherry Red Spot Syndrome

Type I Mucolipidosis

Lipomucopolysaccharidosis

Disorders Of Glycoprotein Metabolism

Glycoprotein Storage Disorder

Mucopolysaccharidosis Iv

Morquio Syndrome

Mucopolysaccharidosis Type 4

Mucopolysaccharidosis Type Iv

Morquio Disease

Galactosamine-6-Sulfatase Deficiency

Mps4

Mpsiv

Morquio-Brailsford Disease

Chondroosteodystrophy

Deficiency Of Chondroitinsulphatase

Deficiency Of N-Acetylgalactosamine-6-Sulphatase

Mucopolysaccharidosis, Mps-Iv

Osteochondrodystrophy

Morquio'S Disease

Morquio'S Syndrome

Mps Iv

Mucopolysaccharidosis Iv

Morquios Syndrome

Mucopolysaccharidosis, Mps-Iv-A

Mucopolysaccharidosis Type Ivb

Galns Deficiency

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency

Gangliosidosis Gm1

Deficiency Of Beta-Galactosidase

Beta Galactosidase 1 Deficiency

Beta-Galactosidosis

Glb 1 Deficiency

Beta-Galactosidase-1 Deficiency

Beta-Galactosidase-1 Deficiency

Glb1 Deficiency

Landing Disease

Gangliosidosis, Gm1

Gangliosidosis

Gangliosidoses

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

Acute Gonococcal Salpingitis

Gonococcal Salpingitis, Specified As Acute

Angiokeratoma

Angiokeratoma Of Skin

Cutaneous Angiokeratoma

Skin Angiokeratoma

Hydrops Fetalis, Nonimmune

Hydrops Fetalis

Non-Immune Hydrops Fetalis

NIHF

Familial Non-Immune Hydrops Fetalis

Hydrops Fetalis Nonimmune

Idiopathic Hydrops Fetalis

Hb Bart'S Hydrops Fetalis

Alpha-Thalassemia Hydrops Fetalis

Alpha-Thalassemia Major

Hemoglobin Bart'S Hydrops Fetalis

Homozygous Alpha0-Thalassemia

Fetal Anasarca

Fetal Hydrops

Generalized Fetal Edema

Hf

Non-Immune Hf

Non-Immune Fetal Edema

Non-Immune Fetal Hydrops

Hydrops Fetalis, Non-Immune

Hemoglobin Bart'S Hydrops Syndrome

Atrophic Rhinitis

Rhinitis, Atrophic

Ozena

Rhinitis Sicca

Dry Rhinitis

Ozaena

Mucolipidosis
Chronic Gonococcal Salpingitis

Gonococcal Salpingitis

Scheie Syndrome

Mucopolysaccharidosis Type Is

Alpha-L-Iduronidase Deficiency

Mucopolysaccharidosis Type I

Mucopolysaccharidosis I

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type 1

Mucopolysaccharidosis Is

Mucopolysaccharidosis Type 1s

Mucopolysaccharidosis Type V

Hurler Syndrome

Idua Deficiency

Mps I

MPS1S

Mps1-S

Mucopolysaccharidosis Type V, Formerly

Mps V, Formerly

Mps5, Formerly

Lipochondrodystrophy

Mpsis

Mucopolysaccharidosis, Type I

Iduronidase Deficiency Disease

Mps I - Hurler Syndrome

Mucopolysaccharidosis, Mps-I

Mucopolysaccharidosis, Type 1

Attenuated Mps I

Mps 1

Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

Severe Mps I

Mps I H

Mps I H-S

Mps I S

Mps1

Mpsi

Mucopolysaccharidosis 1s

Mps Is

Mps-Is

Mps V

Mucopolysaccharidosis V

Pfaundler-Hurler Syndrome

L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Mps1 - [Mucopolysaccharidosis Type 1]

Gm1-Gangliosidosis, Type Ii

Gm1 Gangliosidosis Type 2

GM1G2

Gangliosidosis, Generalized Gm1, Type 2

Juvenile Gm1 Gangliosidosis

Gangliosidosis Generalized Gm1 Type 2

Gangliosidosis, Generalized Gm1, Juvenile Type

Gangliosidosis, Generalized Gm1, Type Ii

Gangliosidosis Generalized Gm1 Juvenile Type

Late-Infantile Gm1 Gangliosidosis

Gm1-Gangliosidosis 2

Gangliosidosis Generalized Gm1 Late Infantile Type

Gm1-Gangliosidosis Generalized Juvenile Type

Gangliosidosis, Gm1, Type Ii

Cataract 48

CTRCT48

Hurler Syndrome

Mucopolysaccharidosis Ih

Mucopolysaccharidosis Type Ih

Mps1-H

MPS1H

Hurler Disease

Mpsih

Mucopolysaccharidosis Type 1h

Alpha-L-Iduronidase Deficiency

Dysostosis Multiplex

Dysostosis Multiplex Syndrome

Gargoylism

Hurler Disease Mps Type 1h

Hurler-Pfaundler Syndrome

L-Iduronidase Deficiency, Hurler Type

Mucopolysaccharidosis Type I Severe Form

Mucopolysaccharidosis 1h

Hurler'S Syndrome

Mps Ih

Mps-Ih

Pfaundler-Hurler Syndrome

Mucopolysaccharidosis I

Mucopolysaccharidosis, Type Ivb

Mucopolysaccharidosis Type Ivb

Mps Ivb

MPS4B

Morquio Syndrome B

Beta-D-Galactosidase Deficiency

Morquio Disease Type B

Mps 4b

Mucopolysaccharidosis Type 4b

Mpsivb

Morquio Disease, Type B

Mucopolysaccharidosis Type Iv-B

Mucopolysaccharidosis 4b

Morquio'S Syndrome B

Mps-Ivb

Skin Hemangioma

Angioma Of The Skin

Angiomatous Naevus Of Skin

Hemangioma Of Skin

Chronic Salpingitis
Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii

Pelvic Inflammatory Disease

Pid

Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids

Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Alsp

Gpsc

Subcortical Gliosis Of Neumann

Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1

Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids

Hdls

HDLS1

Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia

Gliosis, Familial Progressive Subcortical

Leukoencephalopathy, Diffuse Hereditary, With Spheroids

Pold

Pigmentary Orthochromatic Leukodystrophy

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia

Familial Progressive Subcortical Gliosis

Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant

Dementia, Familial, Neumann Type

Adult-Onset Leukodystrophy With Neuroaxonal Spheroids

Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids

Neuroaxonal Leukodystrophy

Fpsg

Familial Dementia, Neumann Type

Familial Dementia Neumann Type

Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Acute Salpingitis
Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Mucopolysaccharidosis, Type Iva

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

Sphingolipidosis

Sphingolipidoses

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Atrial Septal Defect 1

ASD1

Atrial Heart Septal Defect 1

Asd

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CTSA RGD RGD:1309070
Bos taurus CTSA VGNC VGNC:27812
Canis familiaris CTSA VGNC VGNC:39708
Mus musculus CTSA MGD MGI:97748
Felis catus CTSA VGNC VGNC:80077
Macaca mulatta CTSA VGNC VGNC:71617
Others CTSA NCBI