QuickView for PNPLA1;jsessionid=78C71F5CC82025BA1424598CEF0CFA9E;jsessionid=8E00B870E5FFDCAB17AEAE29A58AF56C;jsessionid=601576676A4ABBAB9F5A1EA4C581A295 (gene)

Gene Symbol:

PNPLA1 Homo sapiens

Full name:

patatin like phospholipase domain containing 1

Synonyms:

ARCI10, dJ50J22.1, patatin-like phospholipase domain-containing protein 1

Genomic Location:

Chr 6: 36318923-36384350

Description:

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized,...

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The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

6p21.31

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