Laminin, alpha 2

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LAMA2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLAMA2, LAMM, Laminin, alpha 2, laminin subunit alpha 2, MDC1A
External IDsOMIM: 156225 MGI: 99912 HomoloGene: 37306 GeneCards: LAMA2
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for LAMA2
Genomic location for LAMA2
Band6q22.33Start128,883,141 bp[1]
End129,516,569 bp[1]
RNA expression pattern
PBB GE LAMA2 213519 s at fs.png

PBB GE LAMA2 216840 s at fs.png

PBB GE LAMA2 205116 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000426
NM_001079823

NM_008481

RefSeq (protein)

NP_000417
NP_001073291

NP_032507

Location (UCSC)Chr 6: 128.88 – 129.52 MbChr 10: 26.98 – 27.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene.[5][6][7]

Function[edit]

Laminin, an extracellular matrix 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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196569 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019899 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Ehrig K, Leivo I, Argraves WS, Ruoslahti E, Engvall E (Jun 1990). "Merosin, a tissue-specific basement membrane protein, is a laminin-like protein". Proc Natl Acad Sci U S A. 87 (9): 3264–8. doi:10.1073/pnas.87.9.3264. PMC 53880. PMID 2185464.
  6. ^ Vuolteenaho R, Nissinen M, Sainio K, Byers M, Eddy R, Hirvonen H, Shows TB, Sariola H, Engvall E, Tryggvason K (Feb 1994). "Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues". J Cell Biol. 124 (3): 381–94. doi:10.1083/jcb.124.3.381. PMC 2119934. PMID 8294519.
  7. ^ a b "Entrez Gene: LAMA2 laminin, alpha 2 (merosin, congenital muscular dystrophy)".

Further reading[edit]

External links[edit]