SLCtables

SLC39A13

Protein name: ZIP13, LZT-Hs9 Aliases: N/D Substrates: Zn Transport type: N/D Tissue and cellular expression: widespread Subcellular expression: intracellular vesicles, Golgi Disease: SCD-EDS Locus: 11p.11.12 Sequence ID: NP_001121697.1, NM_001128225.2 NP_689477.2, NM_152264.4 Gene ID: 91252 Splice variants: N/D

S39AD_HUMAN (UniProt)

Gene names: SLC39A13, ZIP13
Protein names and data: S39AD_HUMAN, Full=Zinc transporter ZIP13, Full=LIV-1 subfamily of ZIP zinc transporter 9;Short=LZT-Hs9;Full=Solute carrier family 39 member 13;Full=Zrt- and Irt-like protein 13;Short=ZIP-13; Length: 371 a.a., Mass: 39011 Da,
fasta formatted sequence
Function: Acts as a zinc-influx transporter
Disease: (OMIM: 608735 612350) 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)
Cellular location: Golgi apparatus membrane; Multi-pass membrane protein

Database cross-references

UniProt: Q96H72
NextBio: 77147
OMIM: 608735 612350
Ensembl: ENST00000362021
GeneCard: GC11P047430
PharmGenUCSF: SLC39A13
Guide to Pharmacology: SLC39A13 (1192)
SLC39 family of metal ion transporters (1192)
HGNC: HGNC:20859

Genetic variants

See also Ensembl:ENST00000362021

28 - 28 E -> G (in dbSNP:rs2010519). VAR_037484 2010519
162 - 164 Missing (in SCD-EDS). VAR_054127
346 - 346 P -> L (in dbSNP:rs35978122). VAR_037485 35978122