DMXL2 gene

Dmx like 2

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

From NCBI Gene:

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

From UniProt:

May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes.

From NCBI Gene:

  • Polyendocrine-polyneuropathy syndrome

From UniProt:

Polyendocrine-polyneuropathy syndrome (PEPNS): A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. [MIM:616113]

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2

Molecular Location: base pairs 51,447,724 to 51,622,833 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2
  • PEPNS
  • RC3