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“Hyperoxaluria”, Victor McKusick, Mendelian Inheritance in Man, 1966. 高氧尿症。

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Here I present: “Hyperoxaluria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 高氧尿症。

INTRODUCTION.

Hyperoxaluria is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones (shown ABOVE). There is evidence that hyperoxaluria is caused by a mutation in the Alanine–glyoxylate aminotransferase (Enzyme Commission number EC# 2.6.1.44) AGXT gene on cytogenetic location 2q37.3 and genomic coordinates 2:240,868,824-240,880,500 . The screenshot was the AGXT gene 11,677 bp (base pairs) of DNA sequence length is shown BELOW.   Nine (9) other genes besides AGXT in the 2q37.3 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
2:240,586,734  CAPN10 Calpain-10
2:240,605,430  GPR35 G protein-coupled receptor-35
2:240,691,866  AQP12A  Aquaporin 12A
2:240,713,767  KIF1A Kinesin family member 1A
2:240,868,824  AGXT Alanine–glyoxylate aminotransferase, liver-specific peroxisomal
2:240,997,650  SNED1 SUSHI, NIDOGEN, and EGF-like domains protein 1
2:241,042,586  MTERF4 Mitochondrial transcription termination factor 4
2:241,106,099  PASK Pas domain-containing serine-threonine kinase
2:241,149,573  PPP1R7 Protein phosphatase 1, regulatory subunit 7
2:241,188,677  TMEM16G Transmembrane protein 16G
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