LAMA5 Chromosome 20
Laminin subunit alpha 5
Upload your DNA to see your personal genotypes for variants in LAMA5.
What This Gene Does
This gene encodes one of the vertebrate laminin alpha chains. 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. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Laminin subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000130702
Associated Conditions (12)
Polymicrogyria
LAMA5-related disorder
Inborn genetic diseases
Severe hydrocephalus
Holoprosencephaly sequence
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Nephrotic syndrome
IIa 26
Gastric cancer
Colon adenocarcinoma
Developmental disorder
Key Variants
RS111653839
Conflicting classifications of pathogenicity
Polymicrogyria, LAMA5-related disorder, Polymicrogyria
Health Risk
RS113149937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113371619
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
RS117678561
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266350933
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
RS139412622
Conflicting classifications of pathogenicity
LAMA5-related disorder, LAMA5-related disorder
Health Risk
RS139502000
Conflicting classifications of pathogenicity
Polymicrogyria, Polymicrogyria
Health Risk
RS140700430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141366910
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141989486
Conflicting classifications of pathogenicity
Severe hydrocephalus, Holoprosencephaly sequence, Severe hydrocephalus
Health Risk
RS143341174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Clear cell carcinoma of kidney, Malignant tumor of esophagus
Health Risk
RS143386487
Conflicting classifications of pathogenicity
Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS546335527 | Health Risk | Conflicting classifications of pathogenicity | LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder |
| RS557760409 | Health Risk | Conflicting classifications of pathogenicity | LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder |
| RS571233072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746320156 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746829414 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, Inborn genetic diseases, Nephrotic syndrome |
| RS752949328 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases |
| RS759017891 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LAMA5-related disorder, Inborn genetic diseases |
| RS759030817 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762469320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764941172 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS768998301 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770543738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772529811 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772823363 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777193671 | Health Risk | Conflicting classifications of pathogenicity | LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder |
| RS777754372 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77850827 | Health Risk | Conflicting classifications of pathogenicity | LAMA5-related disorder, Inborn genetic diseases, LAMA5-related disorder |
| RS1979832889 | Health Risk | Likely pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS202119339 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2146037598 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2515979618 | Health Risk | Likely pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS2516055830 | Health Risk | Likely pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS531247856 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS758070332 | Health Risk | Likely pathogenic | Developmental disorder, Developmental disorder |
| RS760778437 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS769916610 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS1168208619 | Health Risk | Pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS1980698221 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2515981247 | Health Risk | Pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS2516671447 | Health Risk | Pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |
| RS369268267 | Health Risk | Pathogenic | Nephrotic syndrome, IIa 26, Nephrotic syndrome |