INPP5E

The official name of this gene is “inositol polyphosphate-5-phosphatase, 72 kDa.”

INPP5E is the gene's official symbol. The INPP5E gene is also known by other names, listed below.

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

Genetics Home Reference provides information about Joubert syndrome, which is associated with changes in the INPP5E gene.

UniProt provides the following information about the INPP5E gene's known or predicted involvement in human disease.

Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1)^[1]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.

Defects in INPP5E are the cause of mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS)^[2]. An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the INPP5E gene.

• Joubert syndrome 1^[1]
• Mental retardation, truncal obesity, retinal dystrophy, and micropenis^[2]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	213300	JOUBERT SYNDROME
[2]	610156	MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
	613037	INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD

Cytogenetic Location: 9q34.3

Molecular Location on chromosome 9: base pairs 139,323,066 to 139,334,255

The INPP5E gene is located on the long (q) arm of chromosome 9 at position 34.3.

More precisely, the INPP5E gene is located from base pair 139,323,066 to base pair 139,334,255 on chromosome 9.

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

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

• OMIM - Genetic disorder catalog
  • JOUBERT SYNDROME
  • MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS
  • INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

apraxia ; ataxia ; autosomal ; autosomal recessive ; calcium ; cell ; congenital ; fibrosis ; gene ; gingival ; hypoplasia ; hypotonia ; infection ; intracellular ; lipid ; malformation ; mediating ; mental retardation ; microcephaly ; micropenis ; mutation ; neonatal ; phenotype ; phosphatase ; phosphate ; polydactyly ; protein ; psychomotor ; recessive ; renal ; renal disease ; retina ; second messenger ; sign ; soluble ; syndrome

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

See also Understanding Medical Terminology.