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Laminin subunit alpha-5

The LAMA5 gene encodes a subunit of laminin an component ob basement mebranes. Mutations are described in connection with FSGS.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5

References:

1.

Ma GC et al. (2008) A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy.

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2.

Secolin R et al. (2013) Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder.

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3.

Miner JH et al. (1995) Molecular cloning of a novel laminin chain, alpha 5, and widespread expression in adult mouse tissues.

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4.

Durkin ME et al. (1997) Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation.

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5.

Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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6.

Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.

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7.

Li J et al. (2003) Laminin-10 is crucial for hair morphogenesis.

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8.

Gao J et al. (2008) Laminin-511 is an epithelial message promoting dermal papilla development and function during early hair morphogenesis.

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9.

Wu C et al. (2009) Endothelial basement membrane laminin alpha5 selectively inhibits T lymphocyte extravasation into the brain.

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10.

Orphanet article

Orphanet ID 470582 external link
11.

NCBI article

NCBI 3911 external link
12.

OMIM.ORG article

Omim 601033 external link
13.

Wikipedia article

Wikipedia EN (Laminin,_alpha_5) external link
Update: Aug. 14, 2020
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