Property Summary

NCBI Gene PubMed Count 12
PubMed Score 5.86
PubTator Score 7.45

Knowledge Summary

Patent

No data available

Expression

Gene

PANTHER Protein Class (1)

Gene RIF (3)

PMID Text
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19508970 Searched for SLC35D1 mutations, identified four novel mutations in three Schneckenbecken dysplasia families. All mutations result in loss of function. No SLC35D1 mutations were id'd in all patients with other spondylodysplastic dysplasias group diseases.
17952091 Loss of function mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia.

AA Sequence

MAEVHRRQHARVKGEAPAKSSTLRDEEELGMASAETLTVFLKLLAAGFYGVSSFLIVVVNKSVLTNYRFP      1 - 70
SSLCVGLGQMVATVAVLWVGKALRVVKFPDLDRNVPRKTFPLPLLYFGNQITGLFSTKKLNLPMFTVLRR     71 - 140
FSILFTMFAEGVLLKKTFSWGIKMTVFAMIIGAFVAASSDLAFDLEGYAFILINDVLTAANGAYVKQKLD    141 - 210
SKELGKYGLLYYNALFMILPTLAIAYFTGDAQKAVEFEGWADTLFLLQFTLSCVMGFILMYATVLCTQYN    211 - 280
SALTTTIVGCIKNILITYIGMVFGGDYIFTWTNFIGLNISIAGSLVYSYITFTEEQLSKQSEANNKLDIK    281 - 350
GKGAV                                                                     351 - 355
//

Text Mined References (13)

PMID Year Title
22412388 2012 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19508970 2009 Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
17952091 2007 Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
17482904 2007 Molecular mechanism of phase I and phase II drug-metabolizing enzymes: implications for detoxification.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
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