A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother’s hormones during pregnancy. Boys with this disease have the opening for urine on the underside of the penis (hypospadias). Other features (in both girls and boys) include extra fingers and toes (polydactyly) and heart defects at birth (congenital heart disease).
The McKusick-Kaufman syndrome (MKKS) is (more common in) the Amish but also occurs in (all other populations) . About 1%-3% of Amish in Lancaster County, Pennsylvania carry one mutated copy of MKKS gene. They do not have the syndrome. To have the MKKS, a child has to inherit two copies of the gene, one from each parent.
The protein predicted by the sequence of the MKKS gene appears similar to the chaperonin family of proteins. The chaperonins protect cells from damage by reshaping abnormal proteins. Protein processing thus appears important during the fetal development of the limb, heart, and reproductive system.
- MCL (medial collateral ligament) of the knee
The meniscus is a c-shaped cartilage pad between the two joints formed by the femur and tibia. The meniscus acts as a smooth surface for the joint to move on. The knee joint is surrounded by fluid-filled sacs called bursae, which serve as gliding surfaces that reduce friction of the tendons. Below the kneecap, there […]
Monocyte chemotactic protein-1, a member of the small inducible gene (SIG) family, plays a role in the recruitment of monocytes to sites of injury and infection. The gene for MCP1 is on chromosome 17 in region 17q11.2-q12. MPC1 has been found in the joints of people with rheumatoid arthritis where may serve to recruit macrophages […]
Membrane cofactor protein. A ubiquitous protein on the surface of cells that regulates complement and is involved in the attachment and ingestion of foreign particles by neutrophils and macrophages. The gene for MCP is on chromosome 1q32.
Abbreviation standing for mixed connective tissue disease.
Abbreviation for mean cell volume, the average volume of a red blood cell. This is a calculated value derived from the hematocrit and the red cell count (The hematocrit is the ratio of the volume of red cells to the volume of whole blood while the red cell count is the number of red blood […]