Property Summary

NCBI Gene PubMed Count 22
Grant Count 6
R01 Count 5
Funding $698,824.08
PubMed Score 208.92
PubTator Score 39.60

Knowledge Summary

Patent

No data available

Synonym

Accession Q86SJ6 A2RUI1 Q6Y9L9 Q8IXV4
Symbols LAH
HYPT6
CDGF13
CDHF13

Gene

PANTHER Protein Class (2)

Gene RIF (10)

PMID Text
25251037 This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair.
22189787 Genetic analysis of striate palmoplantar keratoderma and hypotrichosis identified their responsible genes as desmogleins 1 and 4, respectively.
19683850 show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.
17392831 identification of a single nucleotide deletion within exon 3 of DSG4, designated 87delG in a Pakistani family with localized autosomal recessive hypotrichosis; this results in a frameshift and premature termination codon 162 bp downstream of the deletion
17294735 Epitopes of Dsg4 may play a role in the pathogenesis of pemphigus vulgaris .
16533311 The DSG4 protein is expressed in the more highly differentiated layers of the epidermis.
16382669 A large, intragenic deletion in the desmoglein 4 gene (DSG4) is the underlying mutation in an autosomal recessive form of hypotrichosis.
15545999 DSG4 is pathogenic in pemphigus and staphylococcal scalded skin syndrome.
12705872 The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. We also show that DSG4 is an autoantigen in pemphigus vulgaris.
12648213 the human desmoglein 4 gene (DSG4) demonstrates that it is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 and DSG3.

AA Sequence

MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACREGEDNSKRNPI      1 - 70
AKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREITPLFLIYCRALNSRGEDLERP     71 - 140
LELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLCATDADEENHLNSKIAYKIVSQEPSGAPMFI    141 - 210
LNRYTGEVCTMSSFLDREQHSMYNLVVRGSDRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEE    211 - 280
NCLSSELIRLQAIDLDEEGTDNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIG    281 - 350
VKNQADFHYSVASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGN    351 - 420
PATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTATGTICIEVPDI    421 - 490
NDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWDVRSTNATSAILTAKQVLSPG    491 - 560
FYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGAAGIYTEDITGDTYGPVTEDQAGVSNVGLGP    561 - 630
AGIGMMVLGILLLILAPLLLLLCCCKQRQPEGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPM    631 - 700
TASNTQDRMDSSEIYTNTYAAGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYA    701 - 770
DADINMAFLDSYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKF    771 - 840
RTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPVVHGDIIVTET    841 - 910
YGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYNNVIYAERVLASPGVPDMSNS    911 - 980
STTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGSTSPMTSRHRVTRYSNIHYTQQ              981 - 1040
//

Text Mined References (22)

PMID Year Title
26173648 2015 Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix.
25615553 2015 An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.
25251037 2015 A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
22189787 2012 Desmoglein as a target in skin disease and beyond.
21495994 2011 A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene.
19683850 2009 Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
17392831 2007 Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.
17294735 2007 [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris].
16575393 2006 An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.
16543896 2006 Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.
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