Laminin, Alpha-3

Alternative Names

  • LAMA3
  • Laminin A3
  • Laminin 5, Alpha-3 Subunit
  • LAM5, Alpha-3 Subunit
  • Epiligrin, 170-kd Subunit
  • BM600
Back to search Result
OMIM Number

600805

NCBI Gene ID

3909

Uniprot ID

Q16787

Length

265624 bases

No. of Exons

78

No. of isoforms

4

Protein Name

Laminin subunit alpha-3

Molecular Mass

366649Da

Amino Acid Count

3333

Genomic Location

chr18:23689443-23955066

Gene Map Locus
18q11.2

Description

LAMA3 gene encodes alpha-3 subunit of laminin-5, which belongs to the laminin family and it is an important component of basement membrane zone that attaches the epidermis to the dermis. The laminins are a family of heterotrimeric proteins involved in cellular adhesion, cellular migration and tissue morphogenesis during embryonic development. They play an important role in signal transduction, basement membrane formation and associated functions. Mutations in LAMA3 gene is associated with Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_198129.2:c.4299dupLebanonNC_000018.10:g.23858706dupLikely PathogenicEpidermolysis Bullosa, Junctional 1B, SevereNG_007853.2:g.174109dup; NM_198129.2:c.4299dup; NP_937762.2:p.(Glu1434Argfs*3)
NM_198129.3:c.1789-7_1789-5delTTCLebanonchr18:23814396-23814398PathogenicEpidermolysis Bullosa, Junctional 1B, SevereNG_007853.2:g.129799_129801; NM_198129.3:c.1789-7_1789-5delTTC
© CAGS 2024. All rights reserved.