CYP4F22 - cytochrome P450 family 4 subfamily F member 22-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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126410 CYP4F22

基因描述

Type	Description
Definition	cytochrome P450 family 4 subfamily F member 22

研究结论

Date	Results	Publications
2020-05-16 11:56:00	The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.	32069299
2020-05-09 11:52:00	Study reports a consanguineous family from Southern Tunisia including three members affected with congenital ichthyosis likely due to a novel missense mutation c.728G>T (p.Arg243Leu) in exon 8 of CYP4F2.	31020658
2019-08-17 12:18:00	we provide an up-to-date overview of all published and novel CYP4F22 mutations and point out possible mutation hot spots. We discuss the molecular and clinical findings, the genotype-phenotype correlations and consequences on genetic testing.	30011118
2018-02-10 10:10:00	patients carrying one or two truncating CYP4F22 mutations affecting the SBRs tend to develop collodion membrane at birth	27735052
2017-01-14 10:32:00	We report two cases of Congenital Ichthyosiform Erythroderma showing homozygous mutations in the gene CYP4F22.	26646773

名称对应

Type	IDs
Synonymous	ARCI5, INLNE, LI3
Gene	UniProtKB-ID: CP4FN_HUMAN UniprotKB: Q6NT55 UniParc: UPI000013D84B EMBL: AK096820, BC069351, BC093896, BC093894 Ensembl: ENSG00000171954 KO: hsa:126410
Nucleutide sequences	EMBL-CDS: AAH93894.1, AAH93896.1, AAH69351.1, BAC04868.1 Ensembl_TRS: ENST00000269703, ENST00000601005
Protein sequencees	Ensembl_PRO: ENSP00000269703, ENSP00000469866 RefSeq: NP_775754.2, XP_011525995.1, XP_011525994.1
Others	UniRef100: UniRef100_Q6NT55 UniRef90: UniRef90_Q6NT55 UniRef50: UniRef50_Q6NT55 UniGene: Hs.156452 CCDS: CCDS12331.1

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mRNA

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Refseq

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Pubmed编号	文献信息	发表日期	相关基因
32296183	A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G CotÃ© , Meaghan Daley , Steven Deimling , Alice Desbuleux , AmÃ©lie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , IstvÃ¡n A KovÃ¡cs , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood	2020-04-01	-
32069299	Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. PLoS One Uxia EsperÃ³n-Moldes , Manuel Ginarte-Val , Laura RodrÃguez-Pazos , Laura Fachal , Ana MartÃn-Santiago , AsunciÃ³n Vicente , David JimÃ©nez-Gallo , Encarna GuillÃ©n-Navarro , Loreto Martorell Sampol , MarÃa Antonia GonzÃ¡lez-EnseÃ±at , Ana Vega	2020-01-01	-
31020658	A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. Int J Dermatol Marwa Sayeb , Zied Riahi , Nadia Laroussi , Crystel Bonnet , Lilia Romdhane , Rahma Mkaouar , Anissa Zaouak , Jihene Marrakchi , Ghaith Abdessalem , Olfa Messaoud , Oussema Bouchniba , Nacer Ghilane , Mourad Mokni , Ghazi Besbes , Houda Yacoub-Youssef , Christine Petit , Sonia Abdelhak	2019-12-01	-
30011118	Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Hum Mutat Alrun Hotz , Emmanuelle Bourrat , Julia KÃ¼sel , Vinzenz Oji , Svenja Alter , Lisanne Hake , Mouna Korbi , Hagen Ott , Ingrid Hausser , Andreas D Zimmer , Judith Fischer	2018-10-01	-
27735052	Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis. Clin Exp Dermatol C Feng , H Wang , M Lee , J Zhao , Z Lin , Y Yang	2017-01-01	-
26646773	Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. Pediatr Dermatol Lucero Noguera-Morel , Marta Feito-RodrÃguez , Paola Maldonado-Cid , Sixto GarcÃa-MiÃ±Ã¡ur , Erik-Jan Kamsteeg , Rogelio GonzÃ¡lez-Sarmiento , RaÃºl De Lucas-Laguna , Angela HernÃ¡ndez-MartÃn , Antonio Torrelo	2015-12-09	-
26056268	Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation. Proc Natl Acad Sci U S A Yusuke Ohno , Shota Nakamichi , Aya Ohkuni , Nozomi Kamiyama , Ayano Naoe , Hisashi Tsujimura , Urara Yokose , Kazumitsu Sugiura , Junko Ishikawa , Masashi Akiyama , Akio Kihara	2015-06-23	-
23871423	Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean. J Dermatol Sci Kazumitsu Sugiura , Takuya Takeichi , Kana Tanahashi , Yasutomo Ito , Tomoki Kosho , Ken Saida , Hisashi Uhara , Ryuhei Okuyama , Masashi Akiyama	2013-11-01	-
22209317	CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development. J Dermatol Sci Kaori Sasaki , Masashi Akiyama , Teruki Yanagi , Kaori Sakai , Yuki Miyamura , Megumi Sato , Hiroshi Shimizu	2012-02-01	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-

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