Background information
C1qL2, also known as CTRP10 or C1QTNF10, is a 287 amino acid secreted protein that contains one C1q domain and one collagen-like domain. C1qL2 belongs to a large family of multimeric proteins with a signature globular domain homologous to C1QA. These proteins also share structural homology with TNF family members. The gene that encodes C1qL2 consists of approximately 2,653 bases and maps to human chromosome 2q14.2. Consisting of 237 million bases, chromosome 2 encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is due to mutations in the ALMS1 gene.
