CLEC16A gene

C-type lectin domain family 16 member A

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

From NCBI Gene:

This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

From UniProt:

Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PARK2 pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PARK2 pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PARK2. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.

From UniProt:

Diabetes mellitus, insulin-dependent (IDDM): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:222100]

Cytogenetic Location: 16p13.13, which is the short (p) arm of chromosome 16 at position 13.13

Molecular Location: base pairs 10,944,488 to 11,193,272 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p13.13, which is the short (p) arm of chromosome 16 at position 13.13
  • Gop-1
  • KIAA0350