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Browse result for Microcephaly

※ introduction

    Microcephaly (from Neo-Latin microcephalia, from Ancient Greek ¦Ì¦É¦Ê¦Ñ?? mikr¨®s "small" and ¦Ê¦Å¦Õ¦Ã�¦Ë? kephal¨¦ "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can also result in microcephaly. Microcephaly serves as an important neurological indication or warning sign, but no uniformity exists in its definition. It is usually defined as a head circumference (HC) more than two standard deviations below the mean for age and sex. Some academics advocate defining it as head circumference more than three standard deviations below the mean for the age and sex. There is no specific treatment that returns the head size to normal. In general, life expectancy for individuals with microcephaly is reduced, and the prognosis for normal brain function is poor. Occasional cases develop normal intelligence and grow normally (apart from persistently small head circumference). It is reported that in the United States, microcephaly occurs in 1 in 800-5,000 births.

Reference
Wiki: Microcephaly



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00110P237861376
CPT2
Carnitine O-palmitoyltransferase 2, mitochondrial
Homo sapiens
PTMD00970P527323832
KIF11
Kinesin-like protein KIF11
Homo sapiens
PTMD00039P565249759
HDAC4
Histone deacetylase 4
Homo sapiens
PTMD00967P981603339
HSPG2
Basement membrane-specific heparan sulfate proteoglycan core protein [Cleaved into: Endorepellin; LG3 peptide]
Homo sapiens
PTMD00748Q8NEZ458508
KMT2C
Histone-lysine N-methyltransferase 2C
Homo sapiens
PTMD00764Q929749181
ARHGEF2
Rho guanine nucleotide exchange factor 2
Homo sapiens
PTMD01435O609344683
NBN
Nibrin
Homo sapiens
PTMD01648P515326597
SMARCA4
Transcription activator BRG1
Homo sapiens
PTMD01125Q13315472
ATM
Serine-protein kinase ATM
Homo sapiens
PTMD01744Q13535545
ATR
Serine/threonine-protein kinase ATR
Homo sapiens
PTMD02251O00192421
ARVCF
Splicing regulator ARVCF
Homo sapiens
PTMD02386O1457811113
CIT
Citron Rho-interacting kinase
Homo sapiens
PTMD03334O9498622995
CEP152
Centrosomal protein of 152 kDa
Homo sapiens
PTMD03475O956135116
PCNT
Pericentrin
Homo sapiens
PTMD03481O9563010617
STAMBP
STAM-binding protein
Homo sapiens
PTMD04438P207004001
LMNB1
Lamin-B1
Homo sapiens
PTMD04881P339914173
MCM4
DNA replication licensing factor MCM4
Homo sapiens
PTMD05105P4269523310
NCAPD3
Condensin-2 complex subunit D3
Homo sapiens
PTMD05157P4595436
ACADSB
Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
Homo sapiens
PTMD05173P46100546
ATRX
Transcriptional regulator ATRX
Homo sapiens
PTMD05207P478975859
QARS1
Glutamine--tRNA ligase
Homo sapiens
PTMD05307P494541063
CENPF
Centromere protein F
Homo sapiens
PTMD05387P505425830
PEX5
Peroxisomal targeting signal 1 receptor
Homo sapiens
PTMD05431P515316595
SMARCA2
Probable global transcription activator SNF2L2
Homo sapiens
PTMD05434P5157210134
BCAP31
B-cell receptor-associated protein 31
Homo sapiens
PTMD05616P550752253
FGF8
Fibroblast growth factor 8
Homo sapiens
PTMD05632P55265103
ADAR
Double-stranded RNA-specific adenosine deaminase
Homo sapiens
PTMD05916P6326171
ACTG1
Actin, cytoplasmic 2 [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
Homo sapiens
PTMD05953P783641911
PHC1
Polyhomeotic-like protein 1
Homo sapiens
PTMD06186Q0325284823
LMNB2
Lamin-B2
Homo sapiens
PTMD06865Q1500323397
NCAPH
Condensin complex subunit 2
Homo sapiens
PTMD06876Q150219918
NCAPD2
Condensin complex subunit 1
Homo sapiens
PTMD06881Q150299343
EFTUD2
116 kDa U5 small nuclear ribonucleoprotein component
Homo sapiens
PTMD06897Q150589928
KIF14
Kinesin-like protein KIF14
Homo sapiens
PTMD07690Q5SWA184919
PPP1R15B
Protein phosphatase 1 regulatory subunit 15B
Homo sapiens
PTMD07739Q5T44020020
IBA57
Putative transferase CAF17, mitochondrial
Homo sapiens
PTMD07991Q68CP919652
ARID2
AT-rich interactive domain-containing protein 2
Homo sapiens
PTMD08198Q6NXR480185
TTI2
TELO2-interacting protein 2
Homo sapiens
PTMD08892Q7Z6J928398
TSEN54
tRNA-splicing endonuclease subunit Sen54
Homo sapiens
PTMD08922Q7Z7G815768
VPS13B
Intermembrane lipid transfer protein VPS13B
Homo sapiens
PTMD09149Q86XL323141
ANKLE2
Ankyrin repeat and LEM domain-containing protein 2
Homo sapiens
PTMD10135Q8NG3157082
KNL1
Kinetochore scaffold 1
Homo sapiens
PTMD10800Q927666239
RREB1
Ras-responsive element-binding protein 1
Homo sapiens
PTMD11319Q96HP057572
DOCK6
Dedicator of cytokinesis protein 6
Homo sapiens
PTMD11465Q96L7364324
NSD1
Histone-lysine N-methyltransferase, H3 lysine-36 specific
Homo sapiens
PTMD11470Q96LB380173
IFT74
Intraflagellar transport protein 74 homolog
Homo sapiens
PTMD11789Q96TA210730
YME1L1
ATP-dependent zinc metalloprotease YME1L1
Homo sapiens
PTMD11876Q997085932
RBBP8
DNA endonuclease RBBP8
Homo sapiens
PTMD11884Q99741990
CDC6
Cell division control protein 6 homolog )
Homo sapiens
PTMD12460Q9C0A655209
SETD5
Histone-lysine N-methyltransferase SETD5
Homo sapiens
PTMD12676Q9H26726276
VPS33B
Vacuolar protein sorting-associated protein 33B
Homo sapiens
PTMD13103Q9HC2160386
SLC25A19
Mitochondrial thiamine pyrophosphate carrier
Homo sapiens
PTMD13440Q9NSC26299
SALL1
Sal-like protein 1
Homo sapiens
PTMD14135Q9UHF77227
TRPS1
Zinc finger transcription factor Trps1
Homo sapiens
PTMD14765Q9Y3A427341
RRP7A
Ribosomal RNA-processing protein 7 homolog A
Homo sapiens
PTMD15040Q9Y6D510564
ARFGEF2
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
Homo sapiens