Laminin, Beta-3

Alternative Names

  • LAMB3
  • Laminin B3
  • Laminin 5, Beta-3 Subunit
  • Lam5, Beta-3 Subunit
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OMIM Number

150310

NCBI Gene ID

3914

Uniprot ID

Q13751

Length

37,606 bases

No. of Exons

25

No. of isoforms

1

Protein Name

Laminin Subunit Beta-3

Molecular Mass

129572 Da

Amino Acid Count

1172

Genomic Location

chr1:209,614,869-209,652,466

Gene Map Locus
1q32.2

Description

LAMB3 gene encodes beta subunit laminin, which binds by disulfide bonds with an alpha and a gamma subunit to form laminin-332 (laminin-5). Laminin has several functions: it regulates cell growth, cell movement, and the attachment of cells to one another; involves in the formation and organization of basement membranes; and is also important for wound healing.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000228.3:c.1296_1297insAPalestine; United Arab...NC_000001.11:g.209627571_209627572insTLikely PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007116.1:g.29904_29905insA; NM_000228.3:c.1296_1297insA; NP_000219.2:p.Cys433MetfsTer13
NM_000228.3:c.1942delGYemenchr1:209625681-209625683Epidermolysis Bullosa, Junctional 1A, IntermediateNG_007116.1:g.31794delG; NM_000228.3:c.1942delG; NP_000219.2:p.Val648Trpfs*59
NM_000228.3:c.3247C>TPalestine; United Arab...NC_000001.11:g.209616606G>APathogenicLikely PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007116.1:g.40870C>T; NM_000228.3:c.3247C>T; NP_000219.2:p.Gln1083Ter1301693
NM_001017402.1:c.1460_1461insALebanonchr1:209627407-209627408PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateNG_007116.1:g.30068_30069insA; NM_001017402.1:c.1460_1461insA; NP_001017402.1:p.Asn487Lysfs*49
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