CDSN - corneodesmosin Gene

Homo sapiens

Also known as PSS; HTSS; PSS1; HTSS1; HYPT2

Gene ID: 1041 | Gene type: protein coding

About CDSN

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,115,087-31,120,446 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 88 orthologues and is associated with 5 phenotypes. Restricted expression toward skin (RPKM 78.3).

Summary

This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and Other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]

CDSN Products(1)

mRNA	Protein	Name
NM_001264.5	NP_001255.4	corneodesmosin precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15086562	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in amyloid fibril formation	EXP EXP: Inferred from Experiment	20448140	GOA
involved in amyloid fibril formation	IDA IDA: Inferred from direct assay	20448140	GOA
acts upstream of or within cell-cell adhesion	IDA IDA: Inferred from direct assay	11739386	GOA
involved in corneocyte desquamation	IMP IMP: Inferred from mutant phenotype	26014679	GOA
involved in negative regulation of cornification	IMP IMP: Inferred from mutant phenotype	26014679	GOA
involved in skin morphogenesis	IMP IMP: Inferred from mutant phenotype	20691404	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cornified envelope	IDA IDA: Inferred from direct assay	9395522	GOA
located in desmosome	IDA IDA: Inferred from direct assay	11279026	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

corneodesmosin

S protein

Recombinant CDSN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7820	Corneodesmosin/CDSN Protein, Human (HEK293, His)	AAH31993.1 (K33-P528)	≥95%

Related Diseases

Diseases

Alias

Peeling Skin Syndrome 1

Deciduous Skin	PSS1
Keratolysis Exfoliativa Congenita	Peeling Skin Syndrome Type B
Pss	Skin Peeling, Familial Continuous Generalized
Generalized Deciduous Skin Type B	Generalized Peeling Skin Syndrome Type B
Inflammatory Peeling Skin Syndrome	Pss Type B
Skin Peeling Familial Continuous Generalized	Skin, Peeling, Syndrome, Type 1
Peeling Skin Syndrome

Hypotrichosis 2

HYPT2	Hypotrichosis Simplex Of The Scalp 1
Htss1	Htss
Hypotrichosis, Spanish Type	Spanish Type Hypotrichosis
Hypotrichosis Spanish Type	Hypotrichosis, Type 2
Hypotrichosis Simplex Of Scalp

Hypotrichosis Simplex Of The Scalp

Hereditary Hypotrichosis Simplex Of The Scalp

Peeling Skin Syndrome

Deciduous Skin	Familial Continuous Skin Peeling Syndrome
Idiopathic Deciduous Skin	Keratosis Exfoliativa Congenita
Pss	Peeling Skin Disease
Skin Peeling Syndrome	Familial Continuous Skin Peeling
Keratolysis Exfoliativa Congenita	Exfoliation Syndrome
Keratolysis Exfoliativa

Hypotrichosis

Psoriasis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Psoriasis 9

PSORS9	Psoriasis 9, Susceptibility To
Psoriasis Susceptibility 9

Psoriasis 8

PSORS8	Psoriasis Susceptibility 8
Psoriasis 8, Susceptibility To

Psoriasis 7

PSORS7	Psoriasis 7, Susceptibility To
Psoriasis Susceptibility 7	Psoriasis
Psoriasis Vulgaris	Pv

Psoriasis 10

PSORS10	Psoriasis Susceptibility 10
Psoriasis 10, Susceptibility To

Psoriasis 6

PSORS6	Psoriasis Susceptibility 6
Psoriasis 6, Susceptibility To

Psoriasis 4

PSORS4	Psoriasis Susceptibility 4
Psoriasis 4, Susceptibility To

Psoriasis 1

Psoriasis Vulgaris	PSORS1
Psoriasis 1, Susceptibility To	Psoriasis Susceptibility 1
Psoriasis	Pv
Psoriasis, Susceptibility To, Type 1

T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy

Winged Helix Deficiency	Alymphoid Cystic Thymic Dysgenesis
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome	Pignata Guarino Syndrome
TIDAND	T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy
Congenital Alopecia And Nail Dystrophy Associated With Severe Functional T-Cell Immunodeficiency	Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Foxn1 Deficiency	Nude/Scid
Nude/Severe Combined Immunodeficiency	Scid Due To Foxn1 Deficiency
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy

Hypotrichosis, Congenital, With Juvenile Macular Dystrophy

HJMD	Congenital Hypotrichosis With Juvenile Macular Dystrophy
Hypotrichosis With Cone-Rod Dystrophy	Hypotrichosis With Juvenile Macular Dystrophy
Juvenile Macular Degeneration And Hypotrichosis	Juvenile Macular Dystrophy And Congenital Hypotrichosis
Hypotrichosis With Juvenile Macular Degeneration	Hypotrichosis Congenital With Juvenile Macular Dystrophy

Psoriasis 5

PSORS5	Psoriasis Susceptibility 5
Psoriasis 5, Susceptibility To

Hypotrichosis 7

Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis	HYPT7
Hypotrichosis, Localized, Autosomal Recessive 2	Lah2
Ah	Total Hypotrichosis, Mari Type
Wh/Ht	Hypotrichosis, Autosomal Recessive
Hypotrichosis, Total, Mari Type	Woolly Hair, Autosomal Recessive 2 With Or Without Hypotrichosis
Total Mari Type Hypotrichosis	Alopecia Universalis Congenita, Mari Type
Mari Type Alopecia Universalis Congenita	Autosomal Recessive Hypotrichosis
Autosomal Recessive Localized Hypotrichosis	Autosomal Recessive Woolly Hair With Or Without Hypotrichosis
Htl	Hypotrichoses
Hypotrichosis	Lah
Alopecia Universalis Congenita Mari Type	Hypotrichosis Autosomal Recessive
Hypotrichosis Localized Autosomal Recessive 2	Total Hypotrichosis Mari Type
Woolly Hair Autosomal Recessive 2	ARWH2
Woolly Hair Autosomal Recessive 2 With Or Without Hypotrichosis

Psoriasis 3

PSORS3	Psoriasis Susceptibility 3
Psoriasis 3, Susceptibility To

Ichthyosis Vulgaris

Ichthyosis Simplex	Dominant Congenital Ichthyosiform Erythroderma
Common Ichthyosis	Fish Scale Disease
VI	Ichthyoses
Congenital Ichthyosis

Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11

Netherton Syndrome

NETH	Ns
Netherton Disease	Comel-Netherton Syndrome
Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige	Bamboo Hair Syndrome
Ichthyosis Linearis Circumflexa	Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige
Ilc	Nts
N Syndrome

Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome

Eem Syndrome	Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy
EEMS	Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome
Albrectsen-Svendsen Syndrome	Ohdo-Hirayama-Terawaki Syndrome
Dysplasia, Ectodermal, Ectrodactyly, And Macular Dystrophy

Atrichia With Papular Lesions

Papular Atrichia	APL
Congenital Atrichia

Dermatitis, Atopic

Atopic Dermatitis	Atopic Eczema
Dermatitis, Atopic, Susceptibility To, 1	Atod
Eczema, Atopic	Dermatitis, Atopic 1
Allergic Dermatitis	Atopic Neurodermatitis
Besnier'S Prurigo	Dermatitis, Atopic, 1
Dermatitis Atopic	Eczema
Besnier Prurigo

Eczema Herpeticum

Herpes Simplex Dermatitis	Herpes Simplex Eyelid Dermatitis
Kaposi Varicelliform Eruption	Herpes Simplex Dermatitis Of Eyelid
Herpes Simplex Virus Dermatitis	Herpes Simplex Virus Eyelid Dermatitis

Hypotrichosis 8

HYPT8	Lah3
Hypotrichosis, Localized, Autosomal Recessive 3	Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis
Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis	Hypotrichosis Localized Autosomal Recessive 3
Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis	ARWH1
Hypotrichosis, Type 8

Hypotrichosis 13

HYPT13	Hypotrichosis With Woolly Hair
Hypotrichosis, Type 13

Monilethrix

Beaded Hair	MNLIX
Nodose Hair	Moniliform Hair Syndrome

Pityriasis Rubra Pilaris

PRP	Devergie'S Disease
Prp - [Pityriasis Rubra Pilaris]

Familial Woolly Hair Syndrome

Wooly Hair	Familial Wooly Hair Syndrome
Hereditary Woolly Hair Syndrome	Hereditary Wooly Hair Syndrome
Woolly Hair	Syndrome With Woolly Hair
Wooly Hair Syndrome

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02426	CDSN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-157161	11β-HSD2-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CDSN	VGNC	VGNC:27157
Mus musculus	CDSN	MGD	MGI:3505689
Rattus norvegicus	CDSN	RGD	RGD:1598543
Canis familiaris	CDSN	VGNC	VGNC:39082
Macaca mulatta	CDSN	VGNC	VGNC:70996
Others	CDSN	NCBI