PLCD1 gene

phospholipase C delta 1

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

From NCBI Gene:

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

From UniProt:

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast and placental development.

From NCBI Gene:

  • Leukonychia totalis

From UniProt:

Nail disorder, non-syndromic congenital, 3 (NDNC3): A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). [MIM:151600]

Cytogenetic Location: 3p22.2, which is the short (p) arm of chromosome 3 at position 22.2

Molecular Location: base pairs 38,007,496 to 38,029,663 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p22.2, which is the short (p) arm of chromosome 3 at position 22.2
  • NDNC3
  • PLC-III