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“Juvenile Amyotrophic Lateral Sclerosis ”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ALS) 肌萎缩性侧索硬化症。

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Here I present: “Juvenile Amyotrophic Lateral Sclerosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALS) 肌萎缩性侧索硬化症。

INTRODUCTION.

Autosomal recessive mutations in the alsin (ALS2) gene lead to a clinical spectrum of motor dysfunction including juvenile  amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis, and hereditary spastic paraplegia. The 184-kDa alsin protein is encoded by the full-length (ALS2) gene.

There is evidence juvenile amyotrophic lateral sclerosis-2 (ALS2) can be caused by homozygous mutation in the gene encoding alsin (ALS2) on cytogenetic location 2q33.1 and genomic coordinates   2:201,700,267-201,780,933 . The screenshot of the alsin (ALS2) gene 80,667 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides ALS2 in the 2q33.1 cytogenetic location are listed BENEATH.  

Coordinate  Symbol  Genomic Name.
2:201,451,740  STRADB STE20-related kinase adaptor beta
2:201,487,421  C2CD6 C2 calcium-dependent  protein 6
2:201,620,186  TMEM237 Transmembrane protein 237
2:201,644,874  MPP4 Membrane protein, palmitoylated 4
2:201,700,267  ALS2 Alsin Rho guanine nucleotide exchange  
2:201,806,429  CDK15 Cyclin-dependent kinase 15
2:202,033,855  FZD7 Frizzled class receptor 7
2:202,206,171  SUMO1 Small ubiquitin-like modifier 1
2:202,265,763  NOP58 NOP58 ribonucleoprotein
2:202,376,327  BMPR2 Bone morphogenetic receptor, type II

 

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