CTRC (chymotrypsin C)

2003-05-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
CLCR,ELA4
FUSION GENES

Other Information

Locus ID:

NCBI: 11330
MIM: 601405
HGNC: 2523
Ensembl: ENSG00000162438

Variants:

dbSNP: 11330
ClinVar: 11330
TCGA: ENSG00000162438
COSMIC: CTRC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162438ENST00000375943Q68DR9
ENSG00000162438ENST00000375949Q99895

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
180592682008Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.97
180592682008Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.97
224272362013CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?53
181726912008Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.50
175921422007Chymotrypsin C (caldecrin) promotes degradation of human cationic trypsin: identity with Rinderknecht's enzyme Y.49
225393442012Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.34
229422352013Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.32
225804152013Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.24
239513562013A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.21
216315892011Chymotrypsin C mutations in chronic pancreatitis.17

Citation

Dessen P

CTRC (chymotrypsin C)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40201/ctrc