JavaScript is disabled in your browser. Please enable JavaScript to view this website.

PDGFRL

Involvement in disease

Colorectal cancer

CRC

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

None

The gene represented in this entry is involved in disease pathogenesis.

A polymorphism in PDGFRL has been reported to be associated with susceptibility to Behcet disease (PubMed:22926996). Behcet disease is a complex multiple-system disorder characterized by recurrent oral ulcerations, recurrent genital ulcerations, typical skin lesions, and uveitis. Behcet disease also involves joints, blood vessels, musculoskeletal, neurological systems, and the gastrointestinal tract.

Tissue Specificity

Expressed in colon, lung and liver.

Cellular localization

Alternative names

PRLTS, PDGFRL, Platelet-derived growth factor receptor-like protein, PDGFR-like protein, PDGF receptor beta-like tumor suppressor

swissprot:Q15198 entrezGene:5157 omim:604584