Entity Details

Primary name SLC39A13
Entity type gene
Source Source Link

Details

PrimaryID91252
RefseqGeneNG_017073
SymbolSLC39A13
Namesolute carrier family 39 member 13
Chromosome11
Location11p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS39AD_HUMAN

GO terms

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GOName
GO:0005385 zinc ion transmembrane transporter activity
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0006882 cellular zinc ion homeostasis
GO:0010043 response to zinc ion
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane
GO:0042803 protein homodimerization activity
GO:0048471 perinuclear region of cytoplasm
GO:0061448 connective tissue development
GO:0071577 zinc ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
612350 OMIMEhlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive form characterized by a generalized skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands, in addition to classic features of Ehlers-Danlos syndrome. Clinical features include postnatal growth retardation, moderate short stature, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. Radiologic features include 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). The disease is caused by variants affecting the gene represented in this entry.

Interactions

10 interactions