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UniProt functional annotation for Q9Y5K2 | ||
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| UniProt code: Q9Y5K2. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity). {ECO:0000250|UniProtKB:Q9Z0M1, ECO:0000269|PubMed:15235027}. |
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| Subcellular location: | |
Secreted. |
| Tissue specificity: | |
Expressed in prostate. |
| Ptm: | |
N-glycosylated. The N-glycan structures are of complex diantennary or triantennary type, which may be further modified with up to 2 sialic acid residues. {ECO:0000250|UniProtKB:Q9Z0M1}. |
| Disease: | |
Amelogenesis imperfecta, hypomaturation type, 2A1 (AI2A1) [MIM:204700]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269|PubMed:15235027}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the peptidase S1 family. Kallikrein subfamily. {ECO:0000255|PROSITE-ProRule:PRU00274}. |
Annotations taken from UniProtKB at the EBI.