Lamin A/C

Alternative Names

  • LMNA
  • Lamin A
  • Lamin C
  • LMNC
  • Prelamin A
  • Progerin
Back to search Result
OMIM Number

150330

NCBI Gene ID

4000

Uniprot ID

P02545

Length

57,517 bases

No. of Exons

17

No. of isoforms

6

Protein Name

Prelamin-A/C

Molecular Mass

74139 Da

Amino Acid Count

664

Genomic Location

chr1:156,082,573-156,140,089

Gene Map Locus
1q22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_170707.4:c.1357C>TLebanonchr1:156136413Likely Pathogenic, PathogenicPathogenicEmery-Dreifuss Muscular Dystrophy 2, Autosomal DominantNG_008692.2:g.58841C>T; NM_170707.4:c.1357C>T; NP_733821.1:p.Arg453Trp5893270414478
NM_170707.4:c.1774G>ASaudi ArabiaNC_000001.11:g.156138563G>ALikely PathogenicLikely PathogenicMandibuloacral Dysplasia with Type A LipodystrophyNG_008692.2:g.60991G>A; NM_170707.4:c.1774G>A; NP_733821.1:p.Gly592Arg786205448190987
NM_170707.4:c.1867A>GLebanonchr1:156138656Likely PathogenicPathogenicNG_008692.2:g.61084A>G; NM_170707.4:c.1867A>G; NP_733821.1:p.Thr623Ala757888891289127
© CAGS 2024. All rights reserved.