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中文人类
LMNA - Lamin A/C
Alias:
FPL
IDC
LFP
CDDC
EMD2
FPLD
HGPS
LDP1
LMN1
LMNC
MADA
PRO1
CDCD1
CMD1A
FPLD2
LMNL1
CMT2B1
LGMD1B
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这个基因编码的蛋白质是核层的一部分，核层是一个位于内核膜附近的蛋白质二维基质。Lamin家族蛋白质构成了该基质，并在进化中高度保守。在有丝分裂过程中，随着Lama蛋白质的磷酸化，核层基质可逆地解体。Lamins蛋白质被认为与核稳定性、染色质结构和基因表达有关。脊椎动物的Lamins由两种类型组成，A和B。选择性剪接导致多个转录变异体。这个基因的突变导致几种疾病：Emery-Dreifuss肌营养不良、家族性局部性脂肪营养不良、四肢肌营养不良、扩张型心肌病、Charcot-Marie-Tooth病和Hutchinson-Gilford早老症。[由RefSeq提供，2022年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LMNA 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
