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- Table of Contents
Facts about Dymeclin.
.
Human | |
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Gene Name: | DYM |
Uniprot: | Q7RTS9 |
Entrez: | 54808 |
Belongs to: |
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dymeclin family |
DMCSMCFLJ20071; Dyggve-Melchior-Clausen syndrome protein; dymeclin; FLJ90130
Mass (kDA):
75.935 kDA
Human | |
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Location: | 18q21.1 |
Sequence: | 18; NC_000018.10 (49036387..49460709, complement) |
Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland.
Cytoplasm. Golgi apparatus. Membrane; Lipid-anchor. Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.
PMID: 12554689 by El Ghouzzi V., et al. Mutations in a novel gene dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
PMID: 18996921 by Dimitrov A., et al. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.