ABCMdb

PMID: 21695020

Akiyama M
The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
Dermatoendocrinol. 2011 Apr;3(2):107-12. Epub 2011 Apr 1., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCA12 p.Ile1494Thr ABCA12 p.Ser387Asn One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative. Login to comment 37 ABCA12 p.Ile1494Thr ABCA12 p.Ser387Asn One patient was homozygous for the splice site mutation c.3295-2A>G4 and another was compound heterozygous for p.Ser387Asn and p.Thr1387del.29 Only one heterozygous mutation, p.Ile1494Thr, was identified in the other patient.30 Cultured keratinocytes from all three patients showed apparently disturbed glucosylceramide transport, although this assay is not quantitative. Login to comment