Property Summary

NCBI Gene PubMed Count 21
Grant Count 4
Funding $256,104.33
PubMed Score 21.20
PubTator Score 19.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -1.500 0.000
osteosarcoma -2.107 0.000
non primary Sjogren syndrome sicca 1.100 0.023
subependymal giant cell astrocytoma 1.291 0.019

Synonym

Accession O60683 B3KWD8 Q5T095 Q9BW90
Symbols NALD
PBD6A
PBD6B
RNF69

Gene

Gene RIF (4)

PMID Text
25636090 abnormal expression of PEX10 gene resulting from copy number variations of 1p36 region may be associated with the epilepsy phenotype
20695019 child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, decreased vibration sense and cerebellar atrophy; 2 mutations in PEX10 found in child, c.992G>A and c.764_765insA, and in the adult, c.2T>C and c.790C>T
19105186 the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX10 gene.
14713216 Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.

AA Sequence

MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLG      1 - 70
EEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSG     71 - 140
ARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGED    141 - 210
LRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEER    211 - 280
RHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR                            281 - 326
//

Text Mined References (19)

PMID Year Title
25636090 2015 [Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].
22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.
19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14713216 2003 Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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