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80144 FRAS1

80144

FRAS1

Fraser extracellular matrix complex subunit 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition Fraser extracellular matrix complex subunit 1

研究结论

Date Results Publications
2021-02-06 13:57:00 Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. 31999076
2020-09-26 13:02:00 Fraser extracellular matrix complex subunit 1 promotes liver metastasis of gastric cancer. 31597194
2019-03-02 12:09:00 Based on these data, we conclude that deficiency of FREM2, and possibly FRAS1, are associated with an increased risk of developing Congenital diaphragmatic hernia (CDH) and that loss of the FREM1/FREM2/FRAS1 complex, or its function, leads to anterior sac CDH development through its effects on mesothelial fold progression 29618029
2014-11-22 12:35:00 In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme. 24700879
2013-10-19 14:41:00 Analysis of FRAS1 and STRA6 mutations in the same family with eye anomalies. 22283518

名称对应

Type IDs
Synonymous FRASRS1
Gene
UniProtKB-ID: FRAS1_HUMAN
UniprotKB: Q86XX4
UniParc: UPI0002B8CBF0, UPI000020B086, UPI0000DBEE7B, UPI0000D61584, UPI000021D4C2
EMBL: AJ512501, BC052281, AB040933, AK027833, AK025684, AC093652, AC131945, BC064487, AC104808, AC093886, AL831853, AC093897, BC131820
Ensembl: ENSG00000138759
KO: hsa:80144
Nucleutide sequences
EMBL-CDS: CAD54734.1, AAI31821.1, BAB55399.1, AAH52281.1, BAB15216.1, CAD38554.1, AAH64487.1, BAA96024.2
Ensembl_TRS: ENST00000512123, ENST00000325942
Protein sequencees
Ensembl_PRO: ENSP00000422834, ENSP00000326330
RefSeq: NP_001159605.1, NP_079350.5
Others
UniRef100: UniRef100_Q86XX4
UniRef90: UniRef90_Q86XX4
UniRef50: UniRef50_Q86XX4
UniGene: Hs.369448
CCDS: CCDS54771.1, CCDS54772.1

全选

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