CTSV
Description
The CTSV (cathepsin V) is a protein-coding gene located on chromosome 9.
Cathepsin L2 (EC 3.4.22.43, also known as cathepsin V or cathepsin U) is a protein encoded in humans by the CTSV gene. The protein is a human cysteine cathepsin, a lysosomal cysteine protease with endopeptidase activity. It is a member of the papain-like protease family (MEROPS family C1), a lysosomal cysteine protease with endopeptidase activity. It may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes.
== Clinical significance == Cathepsin L2 may play a role in the pathogenesis of keratoconus.
CTSV is also known as CATL2, CTSL2, CTSU.
Associated Diseases
- hypotrichosis simplex
- alopecia, androgenetic, 1
- alopecia universalis congenita
- Graham Little-Piccardi-Lassueur syndrome
- uncombable hair syndrome
- urinary bladder carcinoma
- hypotrichosis 4
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- central centrifugal cicatricial alopecia
- epidermolysis bullosa simplex with nail dystrophy
- trichodysplasia-xeroderma syndrome
- Olmsted syndrome 1
