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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
SLC35D1 - Solute Carrier Family 35 Member D1
Alias:
SHNKND
UGTREL7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
糖基化细胞糖复合物发生在内质网(ER)和高尔基体室中,并通过特定的转运蛋白将核苷酸糖从细胞质转运到ER和高尔基体的腔内。此基因编码的蛋白质位于ER中,将UDP-葡萄糖酸(UDP-GlcA)和UDP-N-乙酰半乳糖胺(UDP-GalNAc)从细胞质转运到ER腔。它可能参与葡糖醛酸化和/或硫酸软骨素生物合成。此基因的突变与Schneckenbecken发育不良有关。[RefSeq,2009年9月提供]
Related ID:
NCBI:23169
ENSEMBL:ENSG00000116704
HGNC:20800
UNIPROT:Q9NTN3
OMIM:610804
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23169
9
12
81173 bp
39.24
178
1
4
9
SLC35D1 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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