| Gene Symbol |
LMNA
|
| Entrez Gene |
4000
|
| Alt Symbol |
CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lamin A/C
|
| Other Description |
70 kDa lamin|lamin|lamin A/C-like 1|prelamin-A/C|renal carcinoma antigen NY-REN-32
|
| Swissprots |
Q6UYC3 D6RAQ3 Q969I8 Q5I6Y6 Q5TCJ3 P02545 P02546 Q5TCJ2 B4DI32 D3DVB0 E7EUI9 Q5I6Y4 Q96JA2
|
| Accessions |
AHI07399 AHI07400 AHI07401 AHI07402 AHI07403 AHI07404 AHI07405 AHI07406 AHI07407 AHI07408 AHI07409 AHI07410 AHI07411 AHI07412 AHL67294 EAW52996 EAW52997 EAW52998 EAW52999 EAW53000 P02545 AA558657 AF381029 AAK59326 AI872233 AK026584 AK056143 AK056191 AK057997 AK097801 AK098128 AK122732 AK130179 AK294217 BAG57524 AK295390 BAG58344 AK309539 AY357727 AAR29466 AY528714 ABB04050 AY847595 AAW32538 AY847596 AAW32539 AY847597 AAW32540 BC000511 AAH00511 BC003162 AAH03162 BC014507 AAH14507 BC018863 BC033088 AAH33088 BG822820 BU685425 BU732343 CB854404 DA421696 DA551594 DB270595 DC400775 EU831758 ACE87276 EU831836 ACE86595 EU832167 ACE87517 EU832261 ACE86831 HY027676 M13451 AAA36164 M13452 AAA36160 X03444 CAA27173 X03445 CAA27174 XM_011509533 XP_011507835 XM_011509534 XP_011507836 XR_921781 NM_001257374 NP_001244303 NM_001282624 NP_001269553 NM_001282625 NP_001269554 NM_001282626 NP_001269555 NM_005572 NP_005563 NM_170707 NP_733821 NM_170708 NP_733822
|
| Function |
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone.
|
| Subcellular Location |
Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin- A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C.
|
| Tissue Specificity |
In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress. {ECO:0000269|PubMed:20458013}.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|
![Western Blot: Lamin A Overexpression Lysate (Adult Normal) [NBL1-12564] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Lamin A.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/11998_Lamin%2520A%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBL1-12564-img0002.jpg)
![Western Blot: Lamin A Overexpression Lysate (Adult Normal) [NBL1-12565] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Lamin A.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/2671_Lamin%2520A%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-12565-img0001.jpg)