background:
This gene encodes a member of the LISLV1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome.[provided by RefSeq, Mar 2010]
Function:
Acts as a zinc-influx transporter.
Subcellular Location:
Membrane.
DISEASE:
Defects in SLC39A13 are the cause of Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) [MIM:612350]. SCD-EDS is a 'spondylocheiro dysplastic form of Ehlers-Danlos syndrome'. The syndrome consists of a generalized skeletal dysplasia involving mainly the spine (spondylo) and striking clinical abnormalities of the hands (cheiro) in addition to the EDS-like features. Clinical features included postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Patients have thin, hyperelastic skin and hypermobile small joints consistent with an Ehlers-Danlos-like phenotype. Radiologic features included mild to moderate platyspondyly, mild to moderate osteopenia of the spine, small ileum, flat proximal femoral epiphyses, short, wide femoral necks, and broad metaphyses (elbows, knees, wrists, and interphalangeal joints).
Similarity:
Belongs to the ZIP transporter (TC 2.A.5) family.
Database links:
Entrez Gene: 101095193 Cat
Entrez Gene: 743682 Chimpanzee
Entrez Gene: 614946 Cow
Entrez Gene: 475981 Dog
Entrez Gene: 91252 Human
Entrez Gene: 68427 Mouse
Entrez Gene: 713420 Rhesus monkey
Omim: 608735 Human
SwissProt: A5D7H1 Cow
SwissProt: Q96H72 Human
SwissProt: Q8BZH0 Mouse
Unigene: 523664 Human
Unigene: 192375 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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