SSUH2
entrez
51066
canonical
uniprot
Q9Y2M2
canonical
ensembl
ENSG00000125046
resolver
ensp
ENSP00000339150
resolver
ensp
ENSP00000390328
resolver
ensp
ENSP00000439378
resolver
genesymbol
SSUH2
resolver
genesymbol_syn
C3orf32
resolver
hgnc
HGNC:24809
resolver
uniprot
A6NFA9
resolver
uniprot
B3KS84
resolver
uniprot
B7Z6E3
resolver
uniprot
F5H2S5
resolver
uniprot
Q7Z7K4
resolver
uniprot_entry
SSUH2_HUMAN
resolver
uniprot_sec
A6NFA9
resolver
uniprot_sec
B3KS84
resolver
uniprot_sec
B7Z6E3
resolver
uniprot_sec
F5H2S5
resolver
uniprot_sec
Q7Z7K4
resolver
amino_acid_sequence
MDRDLNEDDSVVDLSFEAESPLAPPTELLERLPSYDWLLQGGRGQIFFPPLEAPGRPQEQRSWPSFLEHRVPAMTEEVAREALLSFVDSKCCYSSTVAGDLVIQELKRQTLCRYRLETFSESRISEWTFQPFTNHSVDGPQRGASPRLWDIKVQGPPMFQEDTRKFQVPHSSLVKECHKCHGRGRYKCSGCHGAGTVRCPSCCGAKRKAKQSRRCQLCAGSGRRRCSTCSGRGNKTCATCKGEKKLLHFIQLVIMWKNSLFEFVSEHRLNCPRELLAKAKGENLFKDENSVVYPIVDFPLRDISLASQRGIAEHSAALASRARVLQQRQTIELIPLTEVHYWYQGKTYVYYIYGTDHQVYAVDYPERYCCGCTIV
uniprot
proteins
disease_involvement
DISEASE: Dentin dysplasia 1C (DTDP1C) [MIM:621559]: An autosomal dominant form of dentin dysplasia, a dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. DTDP1C is characterized by severe tooth hypermobility starting in late childhood followed by spontaneous tooth loss around 20 years of age. {ECO:0000269|PubMed:27680507}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in odontogenesis. {ECO:0000269|PubMed:27680507}.
uniprot
proteins
mass_dalton
42732
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
20205943
uniprot
proteins
pubmed
27680507
uniprot
proteins
sequence_length
375
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20205943}. Nucleus {ECO:0000269|PubMed:27680507}.
uniprot
proteins