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329872 Frem1

329872

Frem1

Fras1 related extracellular matrix protein 1

protein-coding

Mus musculus

基因描述

Type Description
Definition Fras1 related extracellular matrix protein 1

研究结论

Date Results Publications
2014-06-21 10:18:00 loss of FREM1 function promotes epidermal blistering in Fraser syndrome as a consequence of reduced PDGFC activity, in addition to its stabilising role in the basement membrane 24046351
2013-12-28 10:40:00 FREM1-deficient mice faithfully recapitulate many of the phenotypes seen in individuals with FREM1 deficiency and that variations in GATA4 and SLIT3 expression modulate some FREM1-related phenotypes in mice. 23536828
2013-07-27 10:52:00 We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH in both humans and mice. 23221805
2012-08-25 10:45:00 the loss of QBRICK significantly diminished The expression of nephronectin, an integrin alpha8beta1 ligand necessary for renal development. 22613833
2012-01-28 11:49:00 Frem1 mutant mice is the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia. 21931569

名称对应

Type IDs
Synonymous BC037594, D430009N09, D630008K06, crf11, eye, eyes2, heb, qbrick
Gene
UniProtKB-ID: FREM1_MOUSE, A2ADN1_MOUSE
UniprotKB: Q684R7, A2ADN1
UniParc: UPI00004C7029, UPI000042B0E6, UPI000057680E
EMBL: AB160986, BC088732, BC138427, AJ616838, AK052629
Ensembl: ENSMUSG00000059049
KO: mmu:329872
Nucleutide sequences
EMBL-CDS: CAE83577.1, AAH88732.1, BAC35069.1, BAD89014.1, AAI38428.1
Ensembl_TRS: ENSMUST00000107230, ENSMUST00000071708
Protein sequencees
Ensembl_PRO: ENSMUSP00000102849, ENSMUSP00000071627
RefSeq: XP_011248357.1, XP_006538081.1, XP_030109476.1, XP_006538077.1, XP_006538078.1, XP_036020085.1, XP_006538076.1, NP_808531.2, XP_036020084.1, NP_001185740.1
Others
UniRef100: UniRef100_Q684R7, UniRef100_A2ADN1
UniRef90: UniRef90_Q684R7
UniRef50: UniRef50_Q684R7
UniGene: Mm.242337
CCDS: CCDS38791.1, CCDS57281.1

全选

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