Property Summary

NCBI Gene PubMed Count 28
Grant Count 5
R01 Count 5
Funding $239,127.83
PubMed Score 32.03
PubTator Score 60.30

Knowledge Summary

Patent

No data available

Expression

Gene RIF (13)

PMID Text
26843707 MMEL1 518 Met/Thr polymorphism contributes to celiac disease risk among Saudi Arabians, both in single and also in synergistic cooperation with SH2B3 gene marker.
22027013 Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.
22008264 The NEP2 expression and activity are altered in MCI is significant as these changes may potentially serve as preclinical markers for AD and reduced NEP2 activity may be associated with the development of Alzheimer's disease.
21784728 This study identifies MMEL1 and CTLA4 as RA susceptibility genes, in Han Chinese popilation.
20639879 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20574445 A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 in multiple sclerosis susceptibility.
20439292 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20190752 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20049410 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERT      1 - 70
FVKRKPRGIPEAQEVSEVCTTPGCVIAAARILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFD     71 - 140
VLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWPVAMDRWNETV    141 - 210
GLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQF    211 - 280
MVSVATLLREDANLPRDSCLVQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFN    281 - 350
WTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLVWRLVLDRIGSLSQRFKDTRV    351 - 420
NYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMD    421 - 490
EESKKKAQEKAMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVD    491 - 560
PNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQALNFGGIGMVIGHEITHGFDDNGRNFDKNG    561 - 630
NMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK    631 - 700
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPM    701 - 770
HPKERCRVW                                                                 771 - 779
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Text Mined References (28)

PMID Year Title
26843707 2015 Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.
24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
22027013 2012 Genetic analysis of genes involved in amyloid-? degradation and clearance in Alzheimer's disease.
22008264 2012 Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
21784728 2011 Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
20639879 2010 Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
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