Description:
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
MARKER CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Ophthalmologic Disorders |
| Alternate IDs |
GM17296 [ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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Confirmation
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Clinical summary/Case history
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ISCN
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47,XXX,ins(6)(p21.3q13q15)[85]/46,XX,ins(6)(p21.3q13q15)[15].arr(X)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Clinically normal; 46,XX,inv ins (6) (p21.3;q15q13)/47,XXX,inv ins(6)(p21.3; q15q13), 15%/85%; normal visual acuity; no evidence of nystagmus or strabismus; normal fundus exam, retinal pigment, luteal pigment, & foveal reflex |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH, Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet42:700-5 1992 |
| PubMed ID: 1632442 |
| dbSNP |
dbSNP ID: 11472 |
| Gene Ontology |
GO:0005215 transporter activity |
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GO:0005302 L-tyrosine transporter activity |
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GO:0005395 eye pigment precursor transporter activity |
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GO:0005737 cytoplasm |
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GO:0006726 eye pigment biosynthesis |
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GO:0006810 transport |
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GO:0015105 arsenite transporter activity |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:4948 |
| NCBI GTR |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| OMIM |
203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 |
| Omim Description |
ALBINISM II |
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ALBINISM, OCULOCUTANEOUS, TYPE II |
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ALBINOIDISMPINK-EYED DILUTION, INCLUDED |
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OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 |
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OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE |
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P, INCLUDED |
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PED, INCLUDED |
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