1. Gene
  2. LAMC3 - laminin subunit gamma 3 Gene

LAMC3 - laminin subunit gamma 3 Gene

Homo sapiens

Also known as OCCM

Gene ID: 10319 | Gene type: protein coding

About LAMC3

Cytogenetic location: 9q34.12 Genomic coordinates (GRCh38): 9:131,009,174-131,094,473 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 27 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 45.0), testis (RPKM 15.3) and 7 other tissues.

Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]

LAMC3 Products(1)

mRNA Protein Name
NM_006059.4 NP_006050.3 laminin subunit gamma-3 precursor

LAMC3 Protein Structure

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (35 - 269)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (271 - 314)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (327 - 377)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (383 - 427)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (430 - 477)

Laminin_B

Laminin_B: Laminin B (Domain IV) (541 - 671)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (673 - 694)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (707 - 752)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (755 - 807)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (810 - 858)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (866 - 914)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (917 - 957)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (965 - 1013)

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  • 1575 a.a.
Protein Preferred Names Protein Names

laminin subunit gamma-3

laminin, gamma 3

Related Diseases

Diseases Alias
Cortical Malformations, Occipital

Occipital Pachygyria And Polymicrogyria

OCCM

Occipital Mcd

Occipital Malformations Of Cortical Development

Cortical Malformations Occipital

Polymicrogyria

Pmg

Tooth Resorption
Alzheimer Disease 12

Ad12

Alzheimer'S Disease 12

Alzheimer Disease, Familial, 12

Alzheimer Disease Familial 12

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus LAMC3 MGD MGI:1344394
Macaca mulatta LAMC3 VGNC VGNC:103276
Felis catus LAMC3 VGNC VGNC:68013
Canis familiaris LAMC3 VGNC VGNC:42573
Bos taurus LAMC3 VGNC VGNC:58386
Rattus norvegicus LAMC3 RGD RGD:1309399