LAMA3
Identifiers
AliasesLAMA3, BM600, E170, LAMNA, LOCS, lama3a, Laminin, alpha 3, laminin subunit alpha 3, JEB2B, JEB2A, JEB2C
External IDsOMIM: 600805 MGI: 99909 HomoloGene: 18279 GeneCards: LAMA3
Orthologs
SpeciesHumanMouse
Entrez

3909

16774

Ensembl

ENSG00000053747

ENSMUSG00000024421

UniProt

Q16787

Q61789

RefSeq (mRNA)

NM_000227
NM_001127717
NM_001127718
NM_001302996
NM_198129

NM_010680
NM_001347461

RefSeq (protein)

NP_000218
NP_001121189
NP_001121190
NP_001289925
NP_937762

NP_001334390
NP_034810

Location (UCSC)Chr 18: 23.69 – 23.96 MbChr 18: 12.47 – 12.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Laminin subunit alpha-3 is a protein that in humans is encoded by the LAMA3 gene.[5][6]

Function

Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 chain of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Alternatively spliced transcript variants encoding different isoforms have been identified.

Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes.[6]

Clinical significance

Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. [6]

It may be associated with Laryngoonychocutaneous syndrome.[7]

Interactions

Laminin, alpha 3 has been shown to interact with SDC2.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000053747 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024421 - 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. ^ Ryan MC, Tizard R, VanDevanter DR, Carter WG (Oct 1994). "Cloning of the LamA3 gene encoding the alpha 3 chain of the adhesive ligand epiligrin. Expression in wound repair". J Biol Chem. 269 (36): 22779–87. doi:10.1016/S0021-9258(17)31713-1. PMID 8077230.
  6. ^ a b c "Entrez Gene: LAMA3 laminin, alpha 3".
  7. ^ McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA, Phillips RJ (September 2003). "An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome". Hum. Mol. Genet. 12 (18): 2395–409. doi:10.1093/hmg/ddg234. PMID 12915477.
  8. ^ Utani A, Nomizu M, Matsuura H, Kato K, Kobayashi T, Takeda U, Aota S, Nielsen PK, Shinkai H (Aug 2001). "A unique sequence of the laminin alpha 3 G domain binds to heparin and promotes cell adhesion through syndecan-2 and -4". J. Biol. Chem. 276 (31): 28779–88. doi:10.1074/jbc.M101420200. PMID 11373281.

Further reading


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