LMNA

Aliases:
This biomarker is also known as:
  • lamin A/C-like 1
  • LGMD1B
  • CMT2B1
  • LMNL1
  • lamin
  • IDC
  • LDP1
  • CDCD1
  • FPL
  • LMNA
  • progeria 1 (Hutchinson-Gilford type)
  • 70 kDa lamin
  • CMD1A
  • limb girdle muscular dystrophy 1B (autosomal dominant)
  • renal carcinoma antigen NY-REN-32
  • FPLD2
  • EMD2
  • LFP
  • cardiomyopathy, dilated 1A (autosomal dominant)
  • lamin A/C
  • HGPS
  • prelamin-A/C
  • LMN1
  • CDDC
  • FPLD
  • LMNC
  • PRO1

Description…

From NCBI Gene: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: LMNA

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Version 5.1.0