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Sequence in raw or FASTA format:

Database:

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HPS4 Hermansky-Pudlak syndrome 4 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_022081 Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA. ORF Sequence $616.83
Peptide Services
Antibody Services
Protein Services
NM_152841 Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 2, mRNA. ORF Sequence $612.48
Peptide Services
Antibody Services
Protein Services


Gene Symbol HPS4
Entrez Gene ID 89781
Full Name Hermansky-Pudlak syndrome 4
Synonyms KIAA1667, LE, bK1048E9.4, bK1048E9.5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

22

22cen-q12.3

Summary This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012].
Disorder

MIM: 606682

Hermansky-Pudlak syndrome 4, 203300 (3)

mRNA Protein Product Sequence Price Select
NM_022081, 402744291 NP_071364, 23110966 Hermansky-Pudlak syndrome 4 protein isoform a Full Length $2322.45
ORF Sequence $616.83
NM_152841, 402744305 NP_690054, 23110970 Hermansky-Pudlak syndrome 4 protein isoform b Full Length $1672.30
ORF Sequence $612.48
Homo sapiens (human)HPS4NP_071364.4
Pan troglodytes (chimpanzee)HPS4XP_001172017.1
Macaca mulatta (Rhesus monkey)HPS4XP_001099509.1
Canis lupus familiaris (dog)HPS4XP_543456.2
Bos taurus (cattle)HPS4NP_001069836.2
Mus musculus (house mouse)Hps4NP_619587.3
Rattus norvegicus (Norway rat)Hps4NP_001100618.1
Gallus gallus (chicken)HPS4XP_415198.2
Danio rerio (zebrafish)hps4NP_956620.1
GeneCards HPS4
UniProt Q9NQG7, A8K2E6, Q6P1K3
MIM 606682
Ensembl ENSG00000100099
HGNC 15844
HPRD 05983

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
Hermansky-Pudlak syndrome 4 protein
Names
Hermansky-Pudlak syndrome 4 protein
light-ear protein homolog

Interactant

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