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- Table of Contents
Facts about Acid ceramidase.
Human | |
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Gene Name: | ASAH1 |
Uniprot: | Q13510 |
Entrez: | 427 |
Belongs to: |
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acid ceramidase family |
ACDase; ACEC 3.5.1.23; Acid CDase; acid ceramidase; Acylsphingosine deacylase; ASAH; FLJ21558; FLJ22079; N-acylsphingosine amidohydrolase (acid ceramidase) 1; N-acylsphingosine amidohydrolase; PHP; PHP32N-acylsphingosine amidohydrolase (acid ceramidase); Putative 32 kDa heart protein
Mass (kDA):
44.66 kDA
Human | |
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Location: | 8p22 |
Sequence: | 8; NC_000008.11 (18055992..18084961, complement) |
Broadly expressed with highest expression in heart.
Lysosome. Secreted. Secretion is extremely low and localization to lysosomes is mannose-6-phosphate receptor-dependent.; [Isoform 2]: Nucleus. Cytoplasm. A localization to the nucleus and the cytoplasm has also been reported for ASAH1, most probably for isoforms devoid of a signal peptide.
PMID: 8955159 by Koch J., et al. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease.
PMID: 10993717 by Zhang Z., et al. Human acid ceramidase gene: novel mutations in Farber disease.