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KRT74: Difference between revisions

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Adding local short description: "Protein-coding gene in humans", overriding Wikidata description "protein-coding gene in the species Homo sapiens"
 
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{{Short description|Protein-coding gene in humans}}

{{infobox protein
{{infobox protein
|name=keratin 74
|name=keratin 74
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'''KRT74''' is a [[keratin]] gene.
'''KRT74''' is a [[keratin]] gene.


Mutations in KRT74 cause {{SWL|type=mutation_results_in|target=dysplasia|label=Hair and Nail Ectodermal Dysplasia}}.<ref name=Raykova2014>{{cite journal | vauthors = Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N | title = Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis | journal = PloS One | volume = 9 | issue = 4 | pages = e93607 | year = 2014 | pmid = 24714551 | pmc = 3979697 | doi = 10.1371/journal.pone.0093607 }}</ref>
[[Mutations]] in KRT74 cause [[ectodermal dysplasia|hair and nail ectodermal dysplasia]].<ref name=Raykova2014>{{cite journal | vauthors = Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N | title = Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis | journal = PLOS ONE | volume = 9 | issue = 4 | pages = e93607 | year = 2014 | pmid = 24714551 | pmc = 3979697 | doi = 10.1371/journal.pone.0093607 | bibcode = 2014PLoSO...993607R | doi-access = free }}</ref>


== References ==
== References ==
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{{Cytoskeletal proteins}}
{{Cytoskeletal proteins}}



{{genetics-stub}}
{{gene-12-stub}}

Latest revision as of 14:21, 1 August 2023

keratin 74
Identifiers
SymbolKRT74
NCBI gene121391
HGNC28929
RefSeqNM_175053
Other data
LocusChr. 12 q13.13

KRT74 is a keratin gene.

Mutations in KRT74 cause hair and nail ectodermal dysplasia.[1]

References

[edit]
  1. ^ Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N (2014). "Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis". PLOS ONE. 9 (4): e93607. Bibcode:2014PLoSO...993607R. doi:10.1371/journal.pone.0093607. PMC 3979697. PMID 24714551.