CRYZL1
Description
The CRYZL1 (crystallin zeta like 1) is a protein-coding gene located on chromosome 21.
CRYZL1 is a gene that encodes a protein with sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This protein contains an NAD(P)H binding site. Alternative splicing of the gene has been observed, but the full-length nature of the transcripts is not completely determined.
CRYZL1 encodes a protein that is a component of the FERRY complex, which is involved in the localization and distribution of specific mRNAs by mediating their endosomal transport. The FERRY complex directly interacts with mRNAs and RAB5A, recruiting mRNAs and ribosomes to early endosomes through direct mRNA-interaction. The complex is composed of five subunits: TBCK, PPP1R21, FERRY3, CRYZL1, and GATD1, in a ratio of 1:2:1:2:4, respectively.
CRYZL1 is also known as 4P11, FERRY4, Fy-4, QOH-1.
Associated Diseases
- schizophrenia 15
- Phelan-McDermid syndrome
- Potocki-Lupski syndrome
- Smith-Magenis syndrome
- intellectual developmental disorder, X-linked, syndromic, Pilorge type
