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中文人类
SMARCAL1 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1
Alias:
HARP
HHARP
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这个基因编码的蛋白质是SWI/SNF家族蛋白质的一员。这个家族的成员具有解旋酶和ATP酶活性，被认为可以通过改变那些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质与大肠杆菌RNA聚合酶结合蛋白HepA具有序列相似性。这个基因的突变是导致Schimke免疫骨营养不良（SIOD）的原因，这是一种具有脊柱骨骺发育异常、肾功能不全和T细胞免疫缺陷的诊断特征的常染色体隐性疾病。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SMARCAL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
