Chediak-Higashi syndrome

Gene Information

Names

HUGO name: LYST

Alias(es):

  • CHS
  • CHS1
  • Human beige protein homolog (chs) mRNA, complete cds
  • Lysosomal trafficking regulator

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

May be required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules.

Subcellular location:

Cytoplasmic (potential)

Alternative products:

At least 3 isoforms are produced by alternative splicing.

Expression

Expression pattern for human

Tissue Expression (%) Clones
adipose, perirenal brown adipose tissue 88.86 1:34
human lens 1.50 2:4028
hypothalamus 0.92 2:6565
placenta human 8 week 0.75 1:4035
foreskin, melanocyte 0.67 3:13478
muscle (skeletal) 0.63 2:9571
testis, cell line 0.53 3:16978
pool, melanocyte+heart+uterus 0.46 5:32944
pool, liver+spleen 0.44 9:61327
hepatocellular carcinoma 0.42 2:14226