SLC30A4

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Description

The SLC30A4 (solute carrier family 30 member 4) is a protein-coding gene located on chromosome 15.

Zinc transporter 4 is a protein encoded by the SLC30A4 gene in humans.

SLC30A4 is a probable proton-coupled zinc ion antiporter that facilitates the movement of zinc from the cytoplasm into the endocytic compartment (PubMed:19521526). It also plays a role in regulating zinc deposition in milk (By similarity).

SLC30A4 is also known as ZNT4, znT-4.

Associated Diseases

• acheiropody
• tibia, hypoplasia or aplasia of, with polydactyly
• acromesomelic dysplasia 2C, Hunter-Thompson type
• Blount disease
• acromesomelic dysplasia 2A
• tibial hemimelia
• syndactyly type 4
• Gollop-Wolfgang complex
• mesomelic dysplasia, Savarirayan type
• laurin-Sandrow syndrome
• Fuhrmann syndrome
• spondyloepimetaphyseal dysplasia, Missouri type
• Osebold-Remondini syndrome
• acromesomelic dysplasia 2B
• chromosome 17P13.3, telomeric, duplication syndrome
• congenital non-bullous ichthyosiform erythroderma
• erythrokeratodermia variabilis
• ectodermal dysplasia-blindness syndrome
• acrorenal syndrome
• isolated dystonia