unnamed protein product [Homo sapiens]

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Opens the Highlight Feature Bar and highlights feature annotations from the FEATURES table of the record. The Highlight Feature Bar can be used to navigate to and highlight other features and provides links to display the highlighted region separately. Links in the FEATURES table will also highlight the corresponding region of the sequence. More...
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Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants. [Ophthalmic Res. 2024]
Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.
Zhou B, Yang J, Bai Y, Li Y, Chen S, Chen X, Zhang N, Cao Z, Zhu Y, Xu Y. Ophthalmic Res. 2024; 67(1):62-75. Epub 2023 Dec 13.
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. [Am J Med Genet A. 2018]
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, et al. Am J Med Genet A. 2018 Dec; 176(12):2819-2823. Epub 2018 Oct 4.
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. [Pediatr Blood Cancer. 2017]
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Andres O, Wiegering V, König EM, Schneider AL, Semeniak D, Stritt S, Klopocki E, Schulze H. Pediatr Blood Cancer. 2017 May; 64(5). Epub 2016 Dec 4.

RefSeq genomic sequence
See the genomic reference sequence for the HPS6 gene (NG_012029.1).
RefSeq protein
See the reference protein sequence for BLOC-2 complex member HPS6 (NP_079023.2).

Nucleotide
Nucleotide sequence from coding region
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
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Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
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Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Encoding mRNA
Link from protein to encoding mRNA
Gene
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PubMed (Weighted)
Links to pubmed

Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]
gi|10438914|dbj|BAB15378.1|

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Protein