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FLASH GENE

Symbol

CDSN

contributors: mct - updated : 26-08-2010

HGNC name	corneodesmosin
HGNC id	1802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HTSS1 hypotrichosis simplex of the scalp 1 PSS peeling skin syndrome, generalized
Location	6p21.33      Physical location : 2.378.682 - 31.088.252
Synonym name	S protein
	human S protein mRNA, complete cds
	differentiated keratinocyte S protein
Synonym symbol(s)	MHCS, S, D6S586E

DNA

TYPE	functioning gene
STRUCTURE	5.35 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - HLA-E - [CDSN - TCF19 - POU5F1 ] - HLA-C - HLA-B - cen
Authors	Zhou (93), Ahnini (99), Nail (00)
Text	[RH1 ] : Identified Risk Haplotype 1 interval (60 kb), highly likely to carry the disease allele at PSORS1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001264 2 - 2583 NP_001255 51.6 529 - Jonca (2002)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum corneum highly Epithelial barrier/lining epidermis stratum granulosum

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument cornified cell Skin/Tegument hair follicle cell Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	late during keratinocyte differentiation

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal adhesive Gly/Ser-rich domain (GS domain) folded to form glycine loops described in cytokeratin loricrin
	proline-rich domain

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Cdsn

intraspecies

homolog to loricrin,keratin 1 and 10

Homologene

FAMILY

CATEGORY

adhesion , secretory , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
text	corneo desmosome
	located in the upper most living layers and in related structures of the cornified layers

basic FUNCTION	playing an important role in corneocyte cohesion
	mediating homophilic adhesive function, major event in the process of desquamation
	involved in growth and maintenance of the scalp hair
	not essential for skin-barrier formation in utero, but is vital throughout life to preserve this barrier by maintaining desmosome integrity (Leclerc 2009)
	phosphorylated basic keratinocyte adhesion glycoprotein located in the extracellular part of the desmosomes and corneodesmosomes at the transition from the stratum granulosum (SG) to the stratum corneum (SC) and in the inner root sheath of the hair follicle (Oji 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HTSS1 , PSS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   reduced degradation of all corneodesmosomal proteins in psoriatic lesions which probably reflects the persistence of corneodesmosomes (Simon 2008)

Susceptibility

psoriasis (PSORS1)

Variant & Polymorphism other	allele 971T confering psoriasis susceptibility
	rare allele (+1243)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cdsn-deficient mouse skin showed detachment of the stratum corneum from the underlying granular layer and/or detachment within the upper granular layers due to the disrupted integrity of the corneodesmosomes (Matsumoto 2008)