LIPN gene

lipase family member N

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

From NCBI Gene:

The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

From UniProt:

Plays a highly specific role in the last step of keratinocyte differentiation. May have an essential function in lipid metabolism of the most differentiated epidermal layers.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Autosomal recessive congenital ichthyosis 8

From UniProt:

Ichthyosis, congenital, autosomal recessive 8 (ARCI8): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [MIM:613943]

Cytogenetic Location: 10q23.31, which is the long (q) arm of chromosome 10 at position 23.31

Molecular Location: base pairs 88,757,226 to 88,783,662 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q23.31, which is the long (q) arm of chromosome 10 at position 23.31
  • ARCI8
  • bA186O14.3
  • LI4
  • LIPL4