C1R gene

complement C1r

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

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
  • Complement component c1r/c1s deficiency

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 7,080,209 to 7,092,447 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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