CTSB
CTSB (Cathepsin B) is a Protein Coding gene. Diseases associated with CTSB include Keratolytic Winter Erythema and Occlusion Of Gallbladder. Among its related pathways are Bacterial infections in CF airways and Innate Immune System. Gene Ontology (GO) annotations related to this gene include peptidase activity and cysteine-type peptidase activity. An important paralog of this gene is TINAGL1.
Function
Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505).
Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505).
Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity).
Has also been implicated in tumor invasion and metastasis (PubMed:3972105).
Biological Process
Cellular response to thyroid hormone stimulus Source: UniProtKB
Collagen catabolic process Source: BHF-UCL
Epithelial cell differentiation Source: UniProtKB
Neutrophil degranulation Source: Reactome
Proteolysis Source: UniProtKB
Proteolysis involved in cellular protein catabolic process Source: BHF-UCL
Regulation of apoptotic process Source: UniProtKB
Regulation of catalytic activity Source: InterPro
Toll-like receptor signaling pathway Source: Reactome
Cellular Location
Lysosome; Apical cell membrane; Extracellular space; Melanosome. Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). Localizes to the lumen of thyroid follicles and to the apical membrane of thyroid epithelial cells (By similarity).
Involvement in disease
Keratolytic winter erythema (KWE):
The gene represented in this entry is involved in disease pathogenesis. Tandem duplications in a non-coding genomic region containing an active enhancer element for CTSB result in CTSB abnormal expression with pathological consequences.
An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family.
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