KIAA1109 gene


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

From NCBI Gene:

This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

From NCBI Gene:


From UniProt:

Alkuraya-Kucinskas syndrome (ALKKUCS): An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. [MIM:617822]

Cytogenetic Location: 4q27, which is the long (q) arm of chromosome 4 at position 27

Molecular Location: base pairs 122,152,333 to 122,362,759 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 4q27, which is the long (q) arm of chromosome 4 at position 27
  • FSA
  • Tweek