PNPLA1 产品
(Patatin-Like phospholipase Domain Containing 1 (PNPLA1))
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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. [provided by RefSeq, Jun 2012].
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PNPLA1 抗体
High quality antibodies with extensive validation data.
Recommended PNPLA1 抗体
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Cat. No.
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Cat. No.
ABIN3086263
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Latest Publications for our PNPLA1 Products
: "PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. ..." in: Nature genetics, Vol. 44, Issue 2, pp. 140-7, (2012) (PubMed).Synonyms and alternative names related to PNPLA1
patatin like phospholipase domain containing 1 (PNPLA1), patatin-like phospholipase domain containing 1 (Pnpla1), ARCI10, dJ50J22.1Protein level used designations for PNPLA1
- patatin-like phospholipase domain-containing protein 1
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