Property Summary

NCBI Gene PubMed Count 58
Grant Count 15
R01 Count 3
Funding $1,190,007.52
PubMed Score 262.27
PubTator Score 125.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
cutaneous lupus erythematosus -1.400 0.010

Gene RIF (52)

PMID Text
26057890 The reduction of tyrosinase activity associated with the knockdown of MATP.
25760657 The results indicated that the D93N mutation causes OCA4 as a result of loss of MATP transport activity, and that the F374 allele confers significantly lower transport activity than L374.
25703744 We identitified a single missense substitution in SLC45A2 in 13 families with oculocutaneous albinism.
25093503 we propose that natural selection in South Europeans is favoring the allele SLC45A2 374F.
24118800 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
24096233 molecular defects in SLC45A2 gene represent the 3.4% of people with oculocutaneous albinism in this cohort of Italian patients, similar to other Caucasian populations
23660638 Results show that almost all the African populations located below 16 degrees of latitude are fixed for the 374l allele of SLC45A2 gene.
23190901 We report four Pakistani albinism mutations, including three SLC45A2 alleles and one 22-nucleotide deletion in TYRP1.
23165166 We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis.
22490798 A novel large deletion mutation was detected and identified in oculocutaneous albinism type IV.
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AA Sequence

MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVLLSVGLPSSLY      1 - 70
SIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALYLNGATVVAALIANPRRKLVW     71 - 140
AISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGLHYHALFTGFGGALGYLLGAIDWAHLELGRL    141 - 210
LGTEFQVMFFFSALVLTLCFTVHLCSISEAPLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVN    211 - 280
PELAMQGAKNKNHAEQTRRAMTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGD    281 - 350
PYSAHNSTEFLIYERGVEVGCWGLCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPN    351 - 420
VYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLTCMVQLAQILV    421 - 490
GGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD                                  491 - 530
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Text Mined References (59)

PMID Year Title
26057890 2015 Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity.
25760657 2015 Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.
25703744 2015 Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
25093503 2014 The interplay between natural selection and susceptibility to melanoma on allele 374F of SLC45A2 gene in a South European population.
24118800 2014 High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
24096233 2014 SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
23660638 2013 Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa.
23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
23190901 2013 Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.
23165166 2013 Association of melanogenesis genes with skin color variation among Japanese females.
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