Family with sequence similarity 111 member a

Family with sequence similarity 111 member A (FAM111A) is a protein that in humans is encoded by the FAM111A gene. The FAM111A protein is a part of the FAM111 family, which also includes FAM111B.

Function

The FAM111A protein has a trypsin-like serine protease domain. It is involved in DNA replication and cell cycle progression, particularly during the S phase of the cell cycle. Mutations in the FAM111A gene have been associated with Kenny-Caffey Syndrome Type 1 and Gracile bone dysplasia, both of which are rare genetic disorders.

Clinical significance

Mutations in the FAM111A gene can cause Kenny-Caffey Syndrome Type 1 and Gracile bone dysplasia. These conditions are characterized by growth retardation, small head size (microcephaly), and thinning of the bones (osteoporosis). In addition, Kenny-Caffey Syndrome Type 1 can cause low levels of calcium in the blood (hypocalcemia) and abnormalities in the immune system.

See also

• Family with sequence similarity 111
• Kenny-Caffey Syndrome
• Gracile bone dysplasia

External links

• NCBI Gene
• UniProt