LOXHD1 - lipoxygenase homology domains 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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125336 LOXHD1

基因描述

Type	Description
Definition	lipoxygenase homology domains 1

研究结论

Date	Results	Publications
2020-12-12 13:28:00	Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.	32149082
2020-05-23 11:38:00	The LOXHD1 variant c.1828G>A present in the wife had not previously been reported in individuals with congenital hearing loss.	31709873
2020-03-21 10:33:00	By analyzing the largest number of patients with LOXHD1 related hearing loss yet to be reported, we determined several characteristics of LOXHD1 variations, and recurrent variants	31547530
2019-11-16 13:00:00	We hypothesize that environmental factors or genetic modifiers are responsible for phenotypic differences. No association was found between heterozygous LOXHD1 variants and the occurrence of Fuchs corneal dystrophy in carriers.	29676012
2019-08-24 11:51:00	Results demonstrated that a novel missense variant, LOXHD1: c.5948C > T, was associated with non-progressive Deafness, autosomal recessive 77 in a Chinese family under consanguineous marriage.	30760222

名称对应

Type	IDs
Synonymous	DFNB77, LH2D1
Gene	UniProtKB-ID: LOXH1_HUMAN, J3QKX9_HUMAN, B7Z7T7_HUMAN, F5GZB4_HUMAN UniprotKB: Q8IVV2, J3QKX9, B7Z7T7, F5GZB4 UniParc: UPI0000456B8D, UPI0001A595CE, UPI000013E67E, UPI000191521B, UPI000268B46A, UPI0000247025, UPI0000EE54E4 EMBL: AK302484, AK057232, AK127869, CH471088, BC041860, AC091139, AC018931, KC877690, AC064800, BC047720 Ensembl: ENSG00000167210 KO: hsa:125336
Nucleutide sequences	EMBL-CDS: BAB71390.1, EAX01479.1, AAH41860.1, AAH47720.1, EAX01480.1, EAX01478.1, BAH13723.1 Gene_ORFName: hCG_2036838 Ensembl_TRS: ENST00000441551, ENST00000300591, ENST00000398686, ENST00000398705, ENST00000579038, ENST00000536736
Protein sequencees	Ensembl_PRO: ENSP00000300591, ENSP00000387621, ENSP00000381692, ENSP00000381676, ENSP00000463285, ENSP00000444586 RefSeq: NP_001294942.1, XP_024306855.1, XP_006722453.1, XP_011524112.1, NP_001166600.1, NP_001371403.1, NP_653213.6, XP_016881037.1, NP_001138944.1, XP_011524113.1, XP_006722452.1, XP_024306852.1, XP_006722454.1, XP_024306854.1, XP_024306856.1, XP_011524106.1, NP_001138945.1, XP_006722451.1, XP_024306853.1
Others	UniRef100: UniRef100_A0A2R8Y7K4, UniRef100_B7Z7T7, UniRef100_F5GZB4, UniRef100_Q8IVV2 UniRef90: UniRef90_F5GZB4, UniRef90_A0A2I3M606, UniRef90_Q8IVV2 UniRef50: UniRef50_A0A4Z2H1Z2, UniRef50_Q8IVV2 UniGene: Hs.345877 CCDS: CCDS45862.1, CCDS54184.1, CCDS45861.1

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mRNA

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Pubmed编号	文献信息	发表日期	相关基因
32149082	Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. Biomed Res Int Xiaohui Bai , Chi Zhang , Fengguo Zhang , Yun Xiao , Yu Jin , Haibo Wang , Lei Xu	2020-01-01	-
31709873	A novel LOXHD1 variant in a Chinese couple with hearing loss. J. Int. Med. Res. Chuan Zhang , Shengju Hao , Yali Liu , Bingbo Zhou , Furong Liu , Lei Zheng , Panpan Ma , Qing Liu , Xiaojuan Lin , Yousheng Yan , Qinghua Zhang	2019-12-01	-
31547530	Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort. Genes (Basel) Karuna Maekawa , Shin-Ya Nishio , Satoko Abe , Shin-Ichi Goto , Yohei Honkura , Satoshi Iwasaki , Yukihiko Kanda , Yumiko Kobayashi , Shin-Ichiro Oka , Mayuri Okami , Chie Oshikawa , Naoko Sakuma , Hajime Sano , Masayuki Shirakura , Natsumi Uehara , Shin-Ichi Usami	2019-09-23	-
30760222	Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family. BMC Med. Genet. Na Shen , Ting Wang , Delei Li , Aiguo Liu , Yanjun Lu	2019-02-13	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29799290	Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. Ophthalmic Genet. Bhavna S Rao , Samdani Ansar , Tharigopala Arokiasamy , Rachapalli R Sudhir , Vetrivel Umashankar , Rama Rajagopal , Nagasamy Soumittra	2018-08-01	-
29676012	Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. Clin. Genet. M Wesdorp , V Schreur , A J Beynon , J Oostrik , J M van de Kamp , M W Elting , M-J H van den Boogaard , I Feenstra , R J C Admiraal , H P M Kunst , C B Hoyng , H Kremer , H G Yntema , R J E Pennings , M Schraders	2018-08-01	-
29676528	E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. FEBS J. Richa Khanna , Vidhya Krishnamoorthy , Veena K Parnaik	2018-06-01	-
27337956	Yeast two-hybrid screening identified WDR77 as a novel interacting partner of TSC22D2. Tumour Biol. Qiao Li , Pan Chen , Zhaoyang Zeng , Fang Liang , Yali Song , Fang Xiong , Xiayu Li , Zhaojian Gong , Ming Zhou , Bo Xiang , Cong Peng , Xiaoling Li , Xiang Chen , Guiyuan Li , Wei Xiong	2016-09-01	-
27121161	Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. Int. J. Mol. Med. Hui Tang , Wen Zhang , Xin-Min Yan , Lin-Ping Wang , Hong Dong , Tao Shou , Huo Lei , Qiang Guo	2016-06-01	-

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