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Gene Information
Gene symbol: SCARB2
Gene name: scavenger receptor class B, member 2
HGNC ID: 1665
Synonyms: HLGP85, LIMPII, SR-BII, LIMP-2
Related Genes
Related Sentences
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PMID |
Sentence |
1 |
29138824
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However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes.
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2 |
29138824
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Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH).
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3 |
29138824
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Genomic DNA of the siblings affected by FH with biopsy‑proven FSGS was analyzed, and their father was screened for 18 gene mutations associated with FSGS [nephrin, podocin, CD2 associated protein, phospholipase C ε, actinin α 4, transient receptor potential cation channel subfamily C member 6, inverted formin, FH2 and WH2 domain containing, Wilms tumor 1, LIM homeobox transcription factor 1 β, laminin subunit β 2, laminin subunit β 3, galactosida α, integrin subunit β 4, scavenger receptor class B member 2, coenzyme Q2, decaprenyl diphosphate synthase subunit 2, mitochondrially encoded tRNA leucine 1 (UUA/G; TRNL1) and SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1] using matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry technology.
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4 |
29138824
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Using mass array technology, a TRNL1 missense homozygous mutation (m. 3290T>C) was identified in the probands diagnosed with FH and manifested as FSGS on biopsy.
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5 |
29138824
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In the present study, a mutation in TRNL1 (m. 3290T>C) was identified, which was the first reported variant associated with FSGS.
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6 |
29138824
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The COL4A4 (c. 4195A>T) may co‑segregate with FSGS.
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