AP-3 complex subunit delta-1 isoform 4 [Homo sapiens]

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Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. [Eur J Med Genet. 2019]
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A. Eur J Med Genet. 2019 Nov; 62(11):103583. Epub 2018 Nov 22.
A new type of syndromic albinism associated with mutations in AP3D1. [Pigment Cell Melanoma Res. 2017]
A new type of syndromic albinism associated with mutations in AP3D1.
Montoliu L, Marks MS. Pigment Cell Melanoma Res. 2017 Jan; 30(1):5-7. Epub 2016 Nov 30.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. [Blood. 2016]
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, et al. Blood. 2016 Feb 25; 127(8):997-1006. Epub 2016 Jan 7.

RefSeq genomic sequence
See the genomic reference sequence for the AP3D1 gene (NG_052886.2).
RefSeq mRNA
See reference mRNA sequence for the AP3D1 gene (NM_001374799.1).

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource

AP-3 complex subunit delta-1 isoform 4 [Homo sapiens]
AP-3 complex subunit delta-1 isoform 4 [Homo sapiens]
gi|1765945250|ref|NP_001361728.1|

Protein
AGENCOURT_7852534 NIH_MGC_67 Homo sapiens cDNA clone IMAGE:6140098 5', mRNA sequ...
AGENCOURT_7852534 NIH_MGC_67 Homo sapiens cDNA clone IMAGE:6140098 5', mRNA sequence
gi|22683299|gnl|dbEST|13443394|gb|B 15.1|

Nucleotide
ubiquitin-conjugating enzyme E2 C isoform 1 [Homo sapiens]
ubiquitin-conjugating enzyme E2 C isoform 1 [Homo sapiens]
gi|5902146|ref|NP_008950.1|

Protein

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Protein