Property Summary

NCBI Gene PubMed Count 23
Grant Count 116
R01 Count 75
Funding $20,968,028.87
PubMed Score 799.64
PubTator Score 299.82

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P51690 Q53FT2 Q53FU8 ASE
Symbols ASE
CDPX
CDPX1
CDPXR

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
25366798 Data indicate that the neonatal detection test sensitivity obtained was 95% with a positive predictive value of 1 in the analyses for both the arylsulfatase E (ARSE) and melanoma antigen family H1 (MAGEH1) genes.
23470839 Results show that Around 40 perdcent of male patients with brachytelephalangic chondrodysplasia punctata do not have detectable ARSE mutations or known maternal etiological factors.
18348268 Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE]

AA Sequence

MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLA      1 - 70
EDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYAT     71 - 140
GLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALT    141 - 210
LVAGKLTHLIPVSWMPVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVA    211 - 280
SFLKRNKHGPFLLFVSFLHVHIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYF    281 - 350
TSDHGGSLENQLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVR    351 - 420
LAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAG    421 - 490
ACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLD    491 - 560
RLGNIWRPWLQPCCGPFPLCWCLREDDPQ                                             561 - 589
//

Text Mined References (23)

PMID Year Title
25366798 2014 Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.
23470839 2013 A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
23462608 2013 Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.
22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
19839041 2009 X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18348268 2008 Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
16470742 2006 Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.
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