1. Gene
  2. CDSN - corneodesmosin Gene

CDSN - corneodesmosin Gene

中文名称:角质锁蛋白

种属: Homo sapiens

同用名: PSS; HTSS; PSS1; HTSS1; HYPT2

基因 ID: 1041 | 基因类型: protein coding

关于 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).

功能概要

该基因编码一种在角质桥粒中发现的蛋白质,它定位于人类表皮和其他角化鳞状上皮细胞。编码的蛋白质在角质细胞成熟过程中经历一系列切割。该基因在人群中具有高度多态性,变异与牛皮癣、少毛症和皮肤脱皮综合症等皮肤病有关。该基因位于 6 号染色体上的主要组织相容性复合体 (MHC) I 类区域。[RefSeq 提供,2014 年 12 月]

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 基因产物(1)

mRNA Protein Name
NM_001264.5 NP_001255.4 corneodesmosin precursor
蛋白主名 其他名称

corneodesmosin

S protein

重组 CDSN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7820 Corneodesmosin/CDSN Protein, Human (HEK293, His) AAH31993.1 (K33-P528) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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