peroxisome biogenesis factor 10 isoform 2 [Homo sapiens]

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Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. [J Neurol. 2016]
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, et al. J Neurol. 2016 Aug; 263(8):1552-8. Epub 2016 May 26.
[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].
Zhang Y, Xu F, Tan Y, Hu J, Wang H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb; 32(1):6-10.
Mutations in PEX10 are a cause of autosomal recessive ataxia. [Ann Neurol. 2010]
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, Schrooten M, Van Coster R, Waterham HR. Ann Neurol. 2010 Aug; 68(2):259-63.

RefSeq genomic sequence
See the genomic reference sequence for the PEX10 gene (NG_008342.1).
RefSeq mRNA
See reference mRNA sequence for the PEX10 gene (NM_002617.4).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the PEX10 gene.

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NP_002608 [Domain Mapping of Disease Mut...]
NP_002608
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

peroxisome biogenesis factor 10 isoform 2 [Homo sapiens]
peroxisome biogenesis factor 10 isoform 2 [Homo sapiens]
gi|4505715|ref|NP_002608.1|

Protein
Angelman Syndrome
Angelman Syndrome
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (S...<br/>Year introduced: 1993

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Protein