Category: Chromosome

Genomic coordinate (human 11:68,039,025 TCIRG1). Cytoband (human 11q13.2 TCIRG1). Here I 🎁 present: “TCIRG1 in Immune-class Disorders”, Victor McK­usick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. The TCIRG1 gene encodes several protein isoforms, with 2 main isoforms. The full-length isoform (OC116) encodes the A3 subunit of vacuolar H(+)-ATPase, which is involved in regulation of the pH of intracellular … Continue reading TCIRG1 in Immune-class Disorders”, Victor McK­usick, Mendelian Inheritance in Man’, 1966.

Genomic coordinate (human 11:77,128,245 MYO7A). Cytoband (human  11q13.5 MYO7A). Here I 🎁 present: “MYO7A in Usher Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MYO7A)   INTRODUCTION.   Usher syndrome is an inherited genetic dis­order primarily characterized by a combination of hearing loss, progressive vi­sion loss, and, in some cases, severe balance issues. It stands … Continue reading “MYO7A in Usher Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (MYO7A)

Genomic coordinate (human 11:36,510,353 RAG1 & 11:36,590,996 RAG2). Cytoband (human 11p12 RAG1/2). Here I  🎁 present:  “B-cell Negative Sever­e-combined Immunodeficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RAG1/2)  idc10=D81.1 INTRODUCTION  The RAG1 and RAG2 proteins function together as an essential heterotetrameric endonuclease complex that initiates V(D)J recombination to assemble functional immunoglobulin and T-cell receptor genes in developing … Continue reading “B-cell Negative Severe-combined Immunodeficiency”, Victor McKusick, Mendelian Inheritance in Man, 1966. (RAG1/2) idc10=D81.1

Genomic coordinate (human 11:4,384,897 TRIM21). Cytoband (human 11p15.4 TRIM21). Here I present: “TRIM21 in Sjogren Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. idc10=M35.00 INTRODUCTION. Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia. Sjögren Autoantigens: Focuses heavily on “tripartite motif-containing protein-21″ (TRIM21) an E3 ubiquitin ligase … Continue reading “TRIM21 in Sjogren Syndrome, Victor McKusick, Mendelian Inheritance in Man, 1966. idc10=M35.00

Genomic coordinate (human 11:2,163,931 TH). Cytoband (human 11p15.5 TH). Here I present: “Segawa-Recessive Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TH). Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal … Continue reading “Segawa-Recessive Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TH)