PEX12 (peroxisomal biogenesis factor 12)

2014-11-01  

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
PAF-3,PBD3A
FUSION GENES

Other Information

Locus ID:

NCBI: 5193
MIM: 601758
HGNC: 8854
Ensembl: ENSG00000108733

Variants:

dbSNP: 5193
ClinVar: 5193
TCGA: ENSG00000108733
COSMIC: PEX12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108733ENST00000225873O00623
ENSG00000108733ENST00000585380K7ELY8
ENSG00000108733ENST00000586663A0A075B773
ENSG00000108733ENST00000613219O00623

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191051862009Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.20
152417942004Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.13
175345732007A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.12
124566822003PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.10

Citation

Dessen P

PEX12 (peroxisomal biogenesis factor 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71836/pex12