C1R gene

complement C1r

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

From UniProt:

C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ehlers-Danlos syndrome, type 8

From UniProt:

Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1): A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD1 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD1 inheritance is autosomal dominant. [MIM:130080]

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31

Molecular Location: base pairs 7,080,219 to 7,092,445 on chromosome 12 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
  • EDSPD1