Laminin, Alpha-2

Alternative Names

  • LAMA2
  • Laminin 2, Heavy Chain
  • Merosin
  • Laminin 2
  • Laminin M
  • LAMM
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OMIM Number

156225

NCBI Gene ID

3908

Uniprot ID

P24043

Length

633,429 bases

No. of Exons

69

No. of isoforms

1

Protein Name

Laminin subunit alpha-2

Molecular Mass

343905 Da

Amino Acid Count

3122

Genomic Location

chr6:128,883,141-129,516,569

Gene Map Locus
6q22.33

Description

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000426.3:c.1300C>TLebanonchr6:129165669PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANG_008678.1:g.287529C>T; NM_000426.3:c.1300C>T; NP_000417.2:p.Arg434Ter1374568851477436
NM_000426.3:c.3829C>TLebanonchr6:129315855PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANG_008678.1:g.437715C>T; NM_000426.3:c.3829C>T; NP_000417.2:p.Arg1277Ter1554269891477464
NM_000426.3:c.8244+3_8246+6delAAGLebanonchr6:129492486Likely PathogenicMuscular Dystrophy, Congenital Merosin-Deficient, 1ANG_008678.1:g.614346_614349delAAG; NM_000426.3:c.8244+3_8246+6delAAG
NM_000426.4:c.3174+23_3174+24insATAlgeria; Lebanon; Moro...chr6:129300895-129300896BenignNG_008678.1:g.422755_422756insAT; NM_000426.4:c.3174+23_3174+24insAT76978149
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