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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PEX26 - Peroxisomal Biogenesis Factor 26
Alias:
PBD7A
PBD7B
PEX26M1T
Pex26pM1T
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于过氧化物酶26基因家族。它可能对于蛋白质导入过氧化物酶体是必需的。它将PEX1和PEX6锚定到过氧化物酶体膜上,可能形成异源AAA ATP酶复合物,该复合物对于蛋白质导入过氧化物酶体是必需的。这个基因的缺陷是导致过氧化物酶体生物发生紊乱互补组8(PBD-CG8)的原因。PBD指的是一组由于蛋白质导入过氧化物酶体膜或基质中的失败而引起的过氧化物酶体紊乱。PBD组由四种疾病组成:Zellweger综合征(ZWS),新生儿肾上腺白细胞营养不良(NALD),婴儿Refsum病(IRD)和经典根骨点状软骨发育不良(RCDP)。已经发现了这个基因的可变剪接转录变异体。[由RefSeq,2010年12月提供]
Related ID:
NCBI:55670
ENSEMBL:ENSG00000215193
HGNC:22965
UNIPROT:Q7Z412
OMIM:608666
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55670
3
5
27407 bp
33.90
451
6
3
17
PEX26 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Status
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