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PLCD1

PLCD1

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

What is the official name of the PLCD1 gene?

The official name of this gene is “phospholipase C, delta 1.”

PLCD1 is the gene's official symbol. The PLCD1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PLCD1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the PLCD1 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PLCD1 gene's known or predicted involvement in human disease.

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). The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PLCD1 gene.
  • Leukonychia totalis
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PLCD1 gene and its association with health conditions.
OMIM
Number
Title

Where is the PLCD1 gene located?

Cytogenetic Location: 3p22-p21.3

Molecular Location on chromosome 3: base pairs 38,007,495 to 38,029,662

The PLCD1 gene is located on the short (p) arm of chromosome 3 between positions 22 and 21.3.

The PLCD1 gene is located on the short (p) arm of chromosome 3 between positions 22 and 21.3.

More precisely, the PLCD1 gene is located from base pair 38,007,495 to base pair 38,029,662 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PLCD1?

You and your healthcare professional may find the following resources about PLCD1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PLCD1 gene or gene products?

  • NDNC3
  • PLC-III

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PLCD1?

cancer ; congenital ; gene ; hereditary ; hydrolysis ; intracellular ; isoforms ; leukonychia ; protein ; second messenger ; signal transduction ; transcript ; transduction ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014