This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]
Function:
Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates.
Subcellular Location:
Cell membrane.
Tissue Specificity:
Most highly expressed in kidney, followed by retina, lung, and testis. Very weakly expressed in brain and liver. Also detected in lens.
DISEASE:
Defects in SLC16A12 are a cause of cataract juvenile with microcornea and glucosuria (CJMG) [MIM:612018]. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.
Similarity:
Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
SWISS:
Q6ZSM3
Gene ID:
387700
Database links:
Entrez Gene: 387700 Human
Entrez Gene: 48638 Mouse
Entrez Gene: 309525 Rat
Omim: 611910 Human
SwissProt: Q6ZSM3 Human
SwissProt: Q8BGC3 Mouse
Unigene: 530338 Human
Unigene: 74636 Mouse
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