Here I present: “Chitotriosidase Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
There is evidence that chitotriosidase deficiency (CHIT) is caused by homozygous or compound heterozygous mutation in the CHIT1 gene. Chitotriosidase (chitinase) is a enzyme with commission number EC# 3.2.1.14.
The CHIT1 gene encodes plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase (chitotriosidase), the human chitinase (EC 3.2.1.14). Chitinase play a role in degrading the chitin walls of some microbes.
The CHIT1 gene is on cytogenetic location 1q32.1 and genomic coordinates 1:203,216,079-203,230,099 . The CHIT1 gene screenshot is shown BELOW of 14,021 bp (base pairs) of DNA sequence length.
