CEP19 gene

centrosomal protein 19

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

From NCBI Gene:

The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]

From NCBI Gene:

  • Morbid obesity and spermatogenic failure

From UniProt:

Morbid obesity and spermatogenic failure (MOSPGF): An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. [MIM:615703]

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29

Molecular Location: base pairs 196,706,273 to 196,712,294 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q29, which is the long (q) arm of chromosome 3 at position 29
  • C3orf34
  • MOSPGF